{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:17:16Z","timestamp":1780481836924,"version":"3.54.1"},"reference-count":212,"publisher":"American Association for Cancer Research (AACR)","issue":"11","content-domain":{"domain":["aacrjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,11,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>Hereditary cancer syndromes are associated with causative pathogenic variants and clinical pathologies. Therapeutic advances have provided proof-of-concept for the actionability of the germline, whereas epidemiologic studies have identified pathogenic germline variants across tumor types regardless of hereditary syndromes. Drug development advances in synthetic lethal approaches, immunotherapeutics, cancer vaccines, and other strategies have led to regulatory approval of multiple agents, supporting the incorporation of universal germline testing. We review the current landscape of germline mutations as cancer drug targets, compare available clinical diagnostics, discuss the development of promising antitumor agents, and envision the future of universal germline testing in cancer medicine.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance:<\/jats:title>\n                    <jats:p>Recent studies have led to the development of novel therapeutic strategies that are redefining germline BRCA1\/2, MSH2, VHL, and other alterations as therapeutically actionable. The current cost-effectiveness of high-throughput germline testing has now made it feasible to consider universal germline testing for all patients with cancer, which will ease access to an increasingly large and effective therapeutic portfolio.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1158\/2159-8290.cd-24-1241","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T08:17:03Z","timestamp":1762157823000},"page":"2213-2234","update-policy":"https:\/\/doi.org\/10.1158\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Germline Mutations as Cancer Drug Targets"],"prefix":"10.1158","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2030-9518","authenticated-orcid":false,"given":"Tin-Yun","family":"Tang","sequence":"first","affiliation":[{"name":"1Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, Texas."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4972-9016","authenticated-orcid":false,"given":"Karen","family":"Colbert Maresso","sequence":"additional","affiliation":[{"name":"2Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1558-3627","authenticated-orcid":false,"given":"Joanne","family":"Ngeow","sequence":"additional","affiliation":[{"name":"3National Cancer Center, Singapore, Singapore."},{"name":"4Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6404-3761","authenticated-orcid":false,"given":"Eduardo","family":"Vilar","sequence":"additional","affiliation":[{"name":"2Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2154-3309","authenticated-orcid":false,"given":"Timothy A.","family":"Yap","sequence":"additional","affiliation":[{"name":"1Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, Texas."},{"name":"5Therapeutics Discovery Division, The University of Texas MD Anderson Cancer Center, Houston, Texas."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1086","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"key":"2025110303165734800_bib1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.ejca.2021.02.029","article-title":"Mainstreaming informed consent for genomic sequencing: a call for action","volume":"148","author":"Bunnik","year":"2021","journal-title":"Eur J Cancer"},{"key":"2025110303165734800_bib2","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1056\/NEJM197205252862104","article-title":"Ethical and social issues in screening for genetic disease","volume":"286","author":"Lapp\u00e9","year":"1972","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib3","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1056\/NEJMclde1915107","article-title":"Disclosure of genetic risk revealed in a research study","volume":"382","author":"Castellanos","year":"2020","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib4","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1158\/2159-8290.CD-16-0860","article-title":"Targeting DNA repair in cancer: beyond PARP inhibitors","volume":"7","author":"Brown","year":"2017","journal-title":"Cancer Discov"},{"key":"2025110303165734800_bib5","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","article-title":"A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1","volume":"266","author":"Miki","year":"1994","journal-title":"Science"},{"key":"2025110303165734800_bib6","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","article-title":"Identification of the breast cancer susceptibility gene BRCA2","volume":"378","author":"Wooster","year":"1995","journal-title":"Nature"},{"key":"2025110303165734800_bib7","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/cncr.29041","article-title":"Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian","volume":"121","author":"Mersch","year":"2015","journal-title":"Cancer"},{"key":"2025110303165734800_bib8","doi-asserted-by":"crossref","first-page":"5013","DOI":"10.1158\/0008-5472.CAN-04-0403","article-title":"Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1","volume":"64","author":"Bau","year":"2004","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib9","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/nature03443","article-title":"Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase","volume":"434","author":"Bryant","year":"2005","journal-title":"Nature"},{"key":"2025110303165734800_bib10","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/s41571-018-0114-z","article-title":"State-of-the-art strategies for targeting the DNA damage response in cancer","volume":"16","author":"Pili\u00e9","year":"2019","journal-title":"Nat Rev Clin Oncol"},{"key":"2025110303165734800_bib11","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1200\/EDBK_238473","article-title":"The DNA damaging revolution: PARP inhibitors and beyond","volume":"39","author":"Yap","year":"2019","journal-title":"Am Soc Clin Oncol Educ Book"},{"key":"2025110303165734800_bib12","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1186\/s13058-014-0475-x","article-title":"Association of BRCA1\/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes","volume":"16","author":"Timms","year":"2014","journal-title":"Breast Cancer Res"},{"key":"2025110303165734800_bib13","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1093\/oncolo\/oyab053","article-title":"Homologous recombination deficiency: concepts, definitions, and assays","volume":"27","author":"Stewart","year":"2022","journal-title":"Oncologist"},{"key":"2025110303165734800_bib14","doi-asserted-by":"crossref","first-page":"e2300093","DOI":"10.1200\/PO.23.00093","article-title":"Pan-cancer analysis of copy-number features identifies recurrent signatures and a homologous recombination deficiency biomarker to predict poly (ADP-Ribose) polymerase inhibitor response","volume":"7","author":"Moore","year":"2023","journal-title":"JCO Precision Oncol"},{"key":"2025110303165734800_bib15","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1093\/jnci\/djy085","article-title":"Biomarkers for homologous recombination deficiency in cancer","volume":"110","author":"Hoppe","year":"2018","journal-title":"J Natl Cancer Inst"},{"key":"2025110303165734800_bib16","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1016\/j.annonc.2020.08.2102","article-title":"ESMO recommendations on predictive biomarker testing for homologous recombination deficiency and PARP inhibitor benefit in ovarian cancer","volume":"31","author":"Miller","year":"2020","journal-title":"Ann Oncol"},{"key":"2025110303165734800_bib17","unstructured":"Myriad Genetics I\n          . Myriad genetics receives FDA approval of BRACAnalysis\u00ae CDx as a companion diagnostic for Lynparza\u00ae in early breast cancer. [cited 2023 Jul 12]. Available from:https:\/\/www.globenewswire.com\/news-release\/2022\/03\/12\/2402083\/15459\/en\/Myriad-Genetics-Receives-FDA-Approval-of-BRACAnalysis-CDx-as-a-Companion-Diagnostic-for-Lynparza-in-Early-Breast-Cancer.html."},{"key":"2025110303165734800_bib18","unstructured":"Medicine Foundation\n          . Foundation medicine receives FDA approval of FoundationFocus CDxBRCA as a companion diagnostic for Rubraca (rucaparib) for the treatment of women with ovarian cancer. [cited 2023 Jul 12]. Available from:https:\/\/www.foundationmedicine.com\/press-releases\/9b3682a1-76a7-4ee0-9499-5f08e8922250."},{"key":"2025110303165734800_bib19","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1056\/NEJMoa2105215","article-title":"Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer","volume":"384","author":"Tutt","year":"2021","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib20","doi-asserted-by":"crossref","first-page":"3878","DOI":"10.1200\/JCO.22.01934","article-title":"Poly(ADP-Ribose) polymerase inhibitors in the management of ovarian cancer: ASCO guideline rapid recommendation update","volume":"40","author":"Tew","year":"2022","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib21","article-title":"NOVA: final analysis confirms No significant overall survival benefit for maintenance niraparib in recurrent ovarian cancer","author":"Staff ASCO Post"},{"key":"2025110303165734800_bib22","article-title":"Dear health care provider letter (niraparib)","author":"GlaxoSmithKline"},{"key":"2025110303165734800_bib23","unstructured":"Oncology C\n          . Dear healthcare profession letter. [cited 2023 July 12]. Available from:https:\/\/clovisoncology.com\/pdfs\/US_DHCPL_final_signed.pdf."},{"key":"2025110303165734800_bib24","unstructured":"Committee SCP\n          . SUMMARY: revisions to FDA approvals for PARP inhibitors in the management of ovarian cancer. [cited 2023 July 12]. Available from: https:\/\/www.sgo.org\/resources\/revisions-to-fda-approvals-for-parp-inhibitors\/."},{"key":"2025110303165734800_bib25","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1056\/NEJMoa1903387","article-title":"Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer","volume":"381","author":"Golan","year":"2019","journal-title":"N Engl J Med"},{"issue":"Suppl 4","key":"2025110303165734800_bib26","doi-asserted-by":"crossref","first-page":"TPS4202","DOI":"10.1200\/JCO.2023.41.16_suppl.TPS4202","article-title":"Apollo: a randomized phase II double-blind study of olaparib versus placebo following curative intent therapy in patients with resected pancreatic cancer and a pathogenic BRCA1, BRCA2, or PALB2 mutation\u2014ECOG-ACRIN EA2192","volume":"41","author":"Reiss","year":"2023","journal-title":"J Clin Oncol"},{"issue":"Suppl 16","key":"2025110303165734800_bib27","doi-asserted-by":"crossref","first-page":"TPS4198","DOI":"10.1200\/JCO.2023.41.16_suppl.TPS4198","article-title":"Randomized phase II trial of olaparib + pembrolizumab vs olaparib alone as maintenance therapy in metastatic pancreatic cancer patients with germline BRCA1 or BRCA2 (gBRCA1\/2+) pathogenic variants: SWOG S2001","volume":"41","author":"Chung","year":"2023","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib28","doi-asserted-by":"crossref","first-page":"e2300240","DOI":"10.1200\/PO.23.00240","article-title":"Olaparib in patients with pancreatic cancer with BRCA1\/2 mutations: results from the targeted agent and profiling utilization registry study","volume":"8","author":"Ahn","year":"2024","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib29","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1200\/JCO.2012.43.1882","article-title":"Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer","volume":"31","author":"Castro","year":"2013","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib30","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/sj.bjc.6604132","article-title":"Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype","volume":"98","author":"Mitra","year":"2008","journal-title":"Br J Cancer"},{"key":"2025110303165734800_bib31","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1093\/jnci\/djm005","article-title":"Prostate cancer progression and survival in BRCA2 mutation carriers","volume":"99","author":"Tryggvad\u00f3ttir","year":"2007","journal-title":"J Natl Cancer Inst"},{"key":"2025110303165734800_bib32","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.eururo.2019.08.019","article-title":"Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers","volume":"76","author":"Page","year":"2019","journal-title":"Eur Urol"},{"key":"2025110303165734800_bib33","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/s41585-019-0164-8","article-title":"The influence of BRCA2 mutation on localized prostate cancer","volume":"16","author":"Taylor","year":"2019","journal-title":"Nat Rev Urol"},{"key":"2025110303165734800_bib34","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1056\/NEJMoa1911440","article-title":"Olaparib for metastatic castration-resistant prostate cancer","volume":"382","author":"de Bono","year":"2020","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib35","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1056\/NEJMoa2022485","article-title":"Survival with olaparib in metastatic castration-resistant prostate cancer","volume":"383","author":"Hussain","year":"2020","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib36","first-page":"EVIDoa2200043","article-title":"Abiraterone and olaparib for metastatic castration-resistant prostate cancer","volume":"1","author":"Clarke","year":"2022","journal-title":"Nejm \u00c9vid"},{"key":"2025110303165734800_bib37","unstructured":"Meeting ODAC\n          . FDA briefing document NDA 208558\/supplement 25. [cited July 12]. Available from:https:\/\/www.fda.gov\/media\/167483\/download."},{"key":"2025110303165734800_bib38","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1021\/acs.jmedchem.6b00990","article-title":"Structural basis for potency and promiscuity in poly(ADP-ribose) polymerase (PARP) and tankyrase inhibitors","volume":"60","author":"Thorsell","year":"2017","journal-title":"J Med Chem"},{"key":"2025110303165734800_bib39","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1182\/blood-2012-12-472845","article-title":"Parp-2 is required to maintain hematopoiesis following sublethal \u03b3-irradiation in mice","volume":"122","author":"Farr\u00e9s","year":"2013","journal-title":"Blood"},{"key":"2025110303165734800_bib40","doi-asserted-by":"crossref","first-page":"14498","DOI":"10.1021\/acs.jmedchem.1c01012","article-title":"Discovery of 5-{4-[(7-Ethyl-6-oxo-5,6-dihydro-1,5-naphthyridin-3-yl)methyl]piperazin-1-yl}-N-methylpyridine-2-carboxamide (AZD5305): a PARP1-DNA trapper with high selectivity for PARP1 over PARP2 and other PARPs","volume":"64","author":"Johannes","year":"2021","journal-title":"J Med Chem"},{"key":"2025110303165734800_bib41","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1158\/1078-0432.CCR-23-2094","article-title":"Preclinical characterization of AZD9574, a blood\u2013brain barrier penetrant inhibitor of PARP1","volume":"30","author":"Staniszewska","year":"2024","journal-title":"Clin Cancer Res"},{"key":"2025110303165734800_bib42","doi-asserted-by":"crossref","first-page":"4724","DOI":"10.1158\/1078-0432.CCR-22-0301","article-title":"Preclinical characterization of AZD5305, A next-generation, highly selective PARP1 inhibitor and trapper","volume":"28","author":"Illuzzi","year":"2022","journal-title":"Clin Cancer Res"},{"issue":"Suppl 12","key":"2025110303165734800_bib43","doi-asserted-by":"crossref","first-page":"CT007","DOI":"10.1158\/1538-7445.AM2022-CT007","article-title":"Abstract CT007: petra: first in class, first in human trial of the next generation PARP1-selective inhibitor AZD5305 in patients (pts) with BRCA1\/2, PALB2 or RAD51C\/D mutations","volume":"82","author":"Yap","year":"2022","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib44","unstructured":"AACR\n          . Next-generation PARP inhibitor demonstrates clinical benefit in patients with homologous recombination repair-deficient breast cancer. [cited 2024 May 8]. Available from:https:\/\/www.aacr.org\/about-the-aacr\/newsroom\/news-releases\/next-generation-parp-inhibitor-demonstrates-clinical-benefit-in-patients-with-homologous-recombination-repair-deficient-breast-cancer\/."},{"key":"2025110303165734800_bib45","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1056\/NEJMoa1400382","article-title":"Breast-cancer risk in families with mutations in PALB2","volume":"371","author":"Antoniou","year":"2014","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib46","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1073\/pnas.0811159106","article-title":"PALB2 is an integral component of the BRCA complex required for homologous recombination repair","volume":"106","author":"Sy","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025110303165734800_bib47","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1200\/JCO.19.01907","article-title":"Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families","volume":"38","author":"Yang","year":"2020","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib48","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1038\/s41436-021-01151-8","article-title":"Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Tischkowitz","year":"2021","journal-title":"Genet Med"},{"key":"2025110303165734800_bib49","doi-asserted-by":"crossref","first-page":"4274","DOI":"10.1200\/JCO.20.02151","article-title":"Tbcrc 048: phase II study of olaparib for metastatic breast cancer and mutations in homologous recombination-related genes","volume":"38","author":"Tung","year":"2020","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib50","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/ng.569","article-title":"Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene","volume":"42","author":"Meindl","year":"2010","journal-title":"Nat Genet"},{"key":"2025110303165734800_bib51","doi-asserted-by":"crossref","first-page":"4445","DOI":"10.1038\/s41467-023-40096-1","article-title":"RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles","volume":"14","author":"Longo","year":"2023","journal-title":"Nat Commun"},{"key":"2025110303165734800_bib52","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg-2022-108898","article-title":"UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2","volume":"60","author":"Hanson","year":"2023","journal-title":"J Med Genet"},{"key":"2025110303165734800_bib53","doi-asserted-by":"crossref","first-page":"e247811","DOI":"10.1001\/jamanetworkopen.2024.7811","article-title":"Prevalence of homologous recombination deficiency among patients with germline RAD51C\/D breast or ovarian cancer","volume":"7","author":"Torres-Esquius","year":"2024","journal-title":"JAMA Netw Open"},{"key":"2025110303165734800_bib54","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1158\/0008-5472.CAN-22-2319","article-title":"Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C","volume":"83","author":"Hu","year":"2023","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib55","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1186\/s12885-022-09567-4","article-title":"BARD1 mystery: tumor suppressors are cancer susceptibility genes","volume":"22","author":"Hawsawi","year":"2022","journal-title":"BMC Cancer"},{"key":"2025110303165734800_bib56","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/hmg\/7.2.195","article-title":"Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers","volume":"7","author":"Thai","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2025110303165734800_bib57","doi-asserted-by":"crossref","first-page":"856","DOI":"10.3390\/genes11080856","article-title":"Literature review of BARD1 as a cancer predisposing gene with a focus on breast and ovarian cancers","volume":"11","author":"Alenezi","year":"2020","journal-title":"Genes (Basel)"},{"key":"2025110303165734800_bib58","doi-asserted-by":"crossref","first-page":"798","DOI":"10.3390\/genes11070798","article-title":"Summary of BARD1 mutations and precise estimation of breast and ovarian cancer risks associated with the mutations","volume":"11","author":"Suszynska","year":"2020","journal-title":"Genes (Basel)"},{"key":"2025110303165734800_bib59","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast cancer risk genes \u2013 association analysis in more than 113,000 women","volume":"384","author":"Dorling","year":"2021","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib60","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41698-022-00291-7","article-title":"PALB2 or BARD1 loss confers homologous recombination deficiency and PARP inhibitor sensitivity in prostate cancer","volume":"6","author":"Dillon","year":"2022","journal-title":"NPJ Precis Oncol"},{"key":"2025110303165734800_bib61","unstructured":"Astrazenca\n          . Lynparza (olaparib) [package insert]. [cited 2025 May 20]. Available from: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2023\/208558s028lbl.pdf."},{"key":"2025110303165734800_bib62","doi-asserted-by":"crossref","first-page":"100744","DOI":"10.1016\/j.drup.2021.100744","article-title":"Overcoming PARPi resistance: preclinical and clinical evidence in ovarian cancer","volume":"55","author":"Chiappa","year":"2021","journal-title":"Drug Resist Updat"},{"key":"2025110303165734800_bib63","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrm3546","article-title":"The ATM protein kinase: regulating the cellular response to genotoxic stress, and more","volume":"14","author":"Shiloh","year":"2013","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2025110303165734800_bib64","doi-asserted-by":"crossref","first-page":"380","DOI":"10.6004\/jnccn.2020.0017","article-title":"NCCN guidelines insights: genetic\/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020","volume":"18","author":"Daly","year":"2020","journal-title":"J Natl Compr Cancer Netw"},{"key":"2025110303165734800_bib65","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1001\/jamaoncol.2021.3701","article-title":"Risk of pancreatic cancer among individuals with pathogenic variants in the ATM gene","volume":"7","author":"Hsu","year":"2021","journal-title":"JAMA Oncol"},{"key":"2025110303165734800_bib66","first-page":"573","article-title":"The incidence and gene frequency of ataxia-telangiectasia in the United States","volume":"39","author":"Swift","year":"1986","journal-title":"Am J Hum Genet"},{"key":"2025110303165734800_bib67","first-page":"209","article-title":"Malignant neoplasms in the families of patients with ataxia-telangiectasia","volume":"36","author":"Swift","year":"1976","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib68","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/ng1837","article-title":"ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles","volume":"38","author":"Renwick","year":"2006","journal-title":"Nat Genet"},{"key":"2025110303165734800_bib69","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1056\/NEJMoa2005936","article-title":"A population-based study of genes previously implicated in breast cancer","volume":"384","author":"Hu","year":"2021","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib70","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41436-019-0633-8","article-title":"A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients","volume":"22","author":"LaDuca","year":"2020","journal-title":"Genet Med"},{"key":"2025110303165734800_bib71","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1158\/1940-6207.CAPR-20-0448","article-title":"Germline pathogenic variants in the ataxia telangiectasia mutated (ATM) gene are associated with high and moderate risks for multiple cancers","volume":"14","author":"Hall","year":"2021","journal-title":"Cancer Prev Res (Phila)"},{"key":"2025110303165734800_bib72","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1002\/humu.20415","article-title":"Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T&gt;G and c.1066\u20136T&gt;G (IVS10\u20136T&gt;G) from the Breast Cancer Family Registry","volume":"27","author":"Bernstein","year":"2006","journal-title":"Hum Mutat"},{"key":"2025110303165734800_bib73","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1056\/NEJMoa2214676","article-title":"Rucaparib or physician\u2019s choice in metastatic prostate cancer","volume":"388","author":"Fizazi","year":"2023","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib74","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/s41379-020-00731-4","article-title":"Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer","volume":"34","author":"Lotan","year":"2021","journal-title":"Mod Pathol"},{"key":"2025110303165734800_bib75","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.eururo.2019.02.002","article-title":"Differential response to olaparib treatment among men with metastatic castration-resistant prostate cancer harboring BRCA1 or BRCA2 versus ATM mutations","volume":"76","author":"Marshall","year":"2019","journal-title":"Eur Urol"},{"key":"2025110303165734800_bib76","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1158\/1541-7786.MCR-14-0240","article-title":"A synthetic lethal screen reveals enhanced sensitivity to ATR inhibitor treatment in mantle cell lymphoma with ATM loss-of-function","volume":"13","author":"Menezes","year":"2015","journal-title":"Mol Cancer Res"},{"key":"2025110303165734800_bib77","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.trecan.2018.09.007","article-title":"Synthetically lethal interactions of ATM, ATR, and DNA-PKcs","volume":"4","author":"Kantidze","year":"2018","journal-title":"Trends Cancer"},{"key":"2025110303165734800_bib78","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1086\/426403","article-title":"CHEK2 is a multiorgan cancer susceptibility gene","volume":"75","author":"Cybulski","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2025110303165734800_bib79","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/ng879","article-title":"Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations","volume":"31","author":"Meijers-Heijboer","year":"2002","journal-title":"Nat Genet"},{"key":"2025110303165734800_bib80","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1086\/421251","article-title":"CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies","volume":"74","author":"CHEK2 Breast Cancer Case-Control Consortium","year":"2004","journal-title":"Am J Hum Genet"},{"key":"2025110303165734800_bib81","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1038\/sj.bjc.6601425","article-title":"CHEK2 variants associate with hereditary prostate cancer","volume":"89","author":"Sepp\u00e4l\u00e4","year":"2003","journal-title":"Br J Cancer"},{"key":"2025110303165734800_bib82","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1038\/sj.bjc.6605038","article-title":"Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband","volume":"100","author":"Gronwald","year":"2009","journal-title":"Br J Cancer"},{"key":"2025110303165734800_bib83","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1086\/375121","article-title":"The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype","volume":"72","author":"Meijers-Heijboer","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2025110303165734800_bib84","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ejca.2017.05.045","article-title":"Colorectal cancer risk associated with the CHEK2 1100delC variant","volume":"83","author":"Katona","year":"2017","journal-title":"Eur J Cancer"},{"key":"2025110303165734800_bib85","doi-asserted-by":"crossref","first-page":"695","DOI":"10.6004\/jnccn.2024.0061","article-title":"Genetic\/Familial high-risk assessment: colorectal, endometrial, and gastric, version 3.2024, NCCN clinical practice guidelines in oncology","volume":"22","author":"Hodan","year":"2024","journal-title":"J Natl Compr Cancer Netw"},{"key":"2025110303165734800_bib86","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41436-019-0596-9","article-title":"Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database","volume":"22","author":"Dominguez-Valentin","year":"2020","journal-title":"Genet Med"},{"key":"2025110303165734800_bib87","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.gim.2022.01.014","article-title":"Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: systematic review and meta-analysis","volume":"24","author":"Abu-Ghazaleh","year":"2022","journal-title":"Genet Med"},{"key":"2025110303165734800_bib88","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/s41571-024-00943-6","article-title":"Neoadjuvant immunotherapy for dMMR and pMMR colorectal cancers: therapeutic strategies and putative biomarkers of response","volume":"21","author":"Williams","year":"2024","journal-title":"Nat Rev Clin Oncol"},{"key":"2025110303165734800_bib89","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","article-title":"PD-1 blockade in tumors with mismatch-repair deficiency","volume":"372","author":"Le","year":"2015","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib90","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1126\/science.aan6733","article-title":"Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade","volume":"357","author":"Le","year":"2017","journal-title":"Science"},{"key":"2025110303165734800_bib91","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1016\/S1470-2045(17)30422-9","article-title":"Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study","volume":"18","author":"Overman","year":"2017","journal-title":"Lancet Oncol"},{"key":"2025110303165734800_bib92","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1200\/JCO.2017.76.9901","article-title":"Durable clinical benefit with nivolumab plus ipilimumab in DNA mismatch repair-deficient\/microsatellite instability-high metastatic colorectal cancer","volume":"36","author":"Overman","year":"2018","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib93","unstructured":"U.S. Food and Drug Administation\n          . FDA grants accelerated approval to pembrolizumab for first tissue\/site agnostic indication. [cited 2025 July 7]. Available from:https:\/\/www.fda.gov\/drugs\/resources-information-approved-drugs\/fda-grants-accelerated-approval-pembrolizumab-first-tissuesite-agnostic-indication."},{"key":"2025110303165734800_bib94","unstructured":"U.S. Food and Drug Administation\n          . FDA grants nivolumab accelerated approval for MSI-H or dMMR colorectal cancer. [cited 2025 July 7]. Available from:https:\/\/www.fda.gov\/drugs\/resources-information-approved-drugs\/fda-grants-nivolumab-accelerated-approval-msi-h-or-dMMR-colorectal-cancer."},{"key":"2025110303165734800_bib95","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1200\/JCO.19.02107","article-title":"Phase II open-label study of pembrolizumab in treatment-refractory, microsatellite instability-high\/mismatch repair-deficient metastatic colorectal cancer: KEYNOTE-164","volume":"38","author":"Le","year":"2020","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib96","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ejca.2023.02.016","article-title":"Pembrolizumab for previously treated, microsatellite instability-high\/mismatch repair-deficient advanced colorectal cancer: final analysis of KEYNOTE-164","volume":"186","author":"Le","year":"2023","journal-title":"Eur J Cancer"},{"key":"2025110303165734800_bib97","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1634\/theoncologist.2019-0129","article-title":"Safety of nivolumab plus low-dose ipilimumab in previously treated microsatellite instability-high\/mismatch repair-deficient metastatic colorectal cancer","volume":"24","author":"Morse","year":"2019","journal-title":"Oncologist"},{"key":"2025110303165734800_bib98","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/j.annonc.2022.06.008","article-title":"Nivolumab plus low-dose ipilimumab in previously treated patients with microsatellite instability-high\/mismatch repair-deficient metastatic colorectal cancer: 4-year follow-up from CheckMate 142","volume":"33","author":"Andr\u00e9","year":"2022","journal-title":"Ann Oncol"},{"key":"2025110303165734800_bib99","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1056\/NEJMoa2017699","article-title":"Pembrolizumab in microsatellite-instability-high advanced colorectal cancer","volume":"383","author":"Andr\u00e9","year":"2020","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib100","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S1470-2045(22)00197-8","article-title":"Pembrolizumab versus chemotherapy for microsatellite instability-high or mismatch repair-deficient metastatic colorectal cancer (KEYNOTE-177): final analysis of a randomised, open-label, phase 3 study","volume":"23","author":"Diaz","year":"2022","journal-title":"Lancet Oncol"},{"key":"2025110303165734800_bib101","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1200\/JCO.21.01015","article-title":"First-line nivolumab plus low-dose ipilimumab for microsatellite instability-high\/mismatch repair-deficient metastatic colorectal cancer: the phase II CheckMate 142 study","volume":"40","author":"Lenz","year":"2022","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib102","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/s41591-020-0805-8","article-title":"Neoadjuvant immunotherapy leads to pathological responses in MMR-proficient and MMR-deficient early-stage colon cancers","volume":"26","author":"Chalabi","year":"2020","journal-title":"Nat Med"},{"key":"2025110303165734800_bib103","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1200\/JCO.22.01351","article-title":"Neoadjuvant pembrolizumab in localized microsatellite instability high\/deficient mismatch repair solid tumors","volume":"41","author":"Ludford","year":"2023","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib104","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1056\/NEJMoa2201445","article-title":"PD-1 blockade in mismatch repair-deficient, locally advanced rectal cancer","volume":"386","author":"Cercek","year":"2022","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib105","doi-asserted-by":"crossref","first-page":"4503","DOI":"10.1158\/1078-0432.CCR-19-3517","article-title":"A frameshift peptide neoantigen-based vaccine for mismatch repair-deficient cancers: a phase I\/IIa clinical trial","volume":"26","author":"Kloor","year":"2020","journal-title":"Clin Cancer Res"},{"key":"2025110303165734800_bib106","doi-asserted-by":"crossref","first-page":"e004416","DOI":"10.1136\/jitc-2021-004416","article-title":"Vaccines for immunoprevention of DNA mismatch repair deficient cancers","volume":"10","author":"Hernandez-Sanchez","year":"2022","journal-title":"J Immunother Cancer"},{"key":"2025110303165734800_bib107","doi-asserted-by":"crossref","first-page":"101204","DOI":"10.1016\/j.mam.2023.101204","article-title":"Advances in vaccine development for cancer prevention and treatment in Lynch Syndrome","volume":"93","author":"Bolivar","year":"2023","journal-title":"Mol Aspects Med"},{"issue":"Suppl 3","key":"2025110303165734800_bib108","first-page":"A441","article-title":"410 Phase I interim study results of Nous-209, an off-the-shelf immunotherapy, with pembrolizumab, for the treatment of tumors with a deficiency in mismatch repair\/microsatellite instability (dMMR\/MSI)","volume":"9","author":"Overman","year":"2021","journal-title":"J Immunother Cancer"},{"key":"2025110303165734800_bib109","doi-asserted-by":"crossref","first-page":"3972","DOI":"10.1158\/0008-5472.CAN-20-1072","article-title":"A genetic vaccine encoding shared cancer neoantigens to treat tumors with microsatellite instability","volume":"80","author":"Leoni","year":"2020","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib110","doi-asserted-by":"crossref","first-page":"e14665","DOI":"10.1200\/JCO.2023.41.16_suppl.e14665","article-title":"Results of phase I-II bridging study for Nous-209, a neoantigen cancer immunotherapy, in combination with pembrolizumab as first line treatment in patients with advanced dMMR\/MSI-h colorectal cancer","volume":"41","author":"Overman","year":"2023","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib111","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/s41586-019-1102-x","article-title":"WRN helicase is a synthetic lethal target in microsatellite unstable cancers","volume":"568","author":"Chan","year":"2019","journal-title":"Nature"},{"key":"2025110303165734800_bib112","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.cell.2017.07.005","article-title":"Project drive: a compendium of cancer dependencies and synthetic lethal relationships uncovered by large-scale, deep RNAi screening","volume":"170","author":"McDonald","year":"2017","journal-title":"Cell"},{"key":"2025110303165734800_bib113","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.arr.2016.03.002","article-title":"Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions","volume":"33","author":"Oshima","year":"2017","journal-title":"Ageing Res Rev"},{"key":"2025110303165734800_bib114","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.isci.2019.02.006","article-title":"Werner syndrome helicase is required for the survival of cancer cells with microsatellite instability","volume":"13","author":"Kategaya","year":"2019","journal-title":"iScience"},{"key":"2025110303165734800_bib115","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1158\/2159-8290.CD-20-1508","article-title":"Werner helicase is a synthetic-lethal vulnerability in mismatch repair\u2013deficient colorectal cancer refractory to targeted therapies, chemotherapy, and immunotherapy","volume":"11","author":"Picco","year":"2021","journal-title":"Cancer Discov"},{"key":"2025110303165734800_bib116","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/s41586-020-2769-8","article-title":"Repeat expansions confer WRN dependence in microsatellite-unstable cancers","volume":"586","author":"van Wietmarschen","year":"2020","journal-title":"Nature"},{"key":"2025110303165734800_bib117","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/s41698-022-00319-y","article-title":"Clinical prospects of WRN inhibition as a treatment for MSI tumours","volume":"6","author":"Morales-Juarez","year":"2022","journal-title":"NPJ Precis Oncol"},{"key":"2025110303165734800_bib118","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/s41586-024-07350-y","article-title":"Discovery of WRN inhibitor HRO761 with synthetic lethality in MSI cancers","volume":"629","author":"Ferretti","year":"2024","journal-title":"Nature"},{"issue":"Suppl 12","key":"2025110303165734800_bib119","doi-asserted-by":"crossref","first-page":"B143","DOI":"10.1158\/1535-7163.TARG-23-B143","article-title":"Abstract B143: HRO761, a first-in-class, clinical stage WRN inhibitor with potent preclinical anti-tumor activity in MSIhigh models","volume":"22","author":"Ferretti","year":"2023","journal-title":"Mol Cancer Ther"},{"key":"2025110303165734800_bib120","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41586-024-07318-y","article-title":"Chemoproteomic discovery of a covalent allosteric inhibitor of WRN helicase","volume":"629","author":"Baltgalvis","year":"2024","journal-title":"Nature"},{"key":"2025110303165734800_bib121","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0002-9343(64)90107-X","article-title":"Lindau\u2019s disease: review of the literature and study of a large kindred","volume":"36","author":"Melmon","year":"1964","journal-title":"Am J Med"},{"key":"2025110303165734800_bib122","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1126\/science.8493574","article-title":"Identification of the von Hippel-Lindau disease tumor suppressor gene","volume":"260","author":"Latif","year":"1993","journal-title":"Science"},{"key":"2025110303165734800_bib123","first-page":"521","article-title":"Genetic analysis of von Hippel-Lindau disease","volume":"31","author":"Nordstrom-O'Brien","year":"2010","journal-title":"Hum Mutat"},{"key":"2025110303165734800_bib124","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1093\/hmg\/4.11.2139","article-title":"Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene","volume":"4","author":"Richards","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2025110303165734800_bib125","doi-asserted-by":"crossref","first-page":"31128","DOI":"10.1038\/srep31128","article-title":"VHLdb: A database of von Hippel-Lindau protein interactors and mutations","volume":"6","author":"Tabaro","year":"2016","journal-title":"Sci Rep"},{"key":"2025110303165734800_bib126","first-page":"765","article-title":"Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors","volume":"60","author":"Prowse","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025110303165734800_bib127","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1038\/s41416-022-01724-7","article-title":"Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service","volume":"126","author":"Maher","year":"2022","journal-title":"Br J Cancer"},{"key":"2025110303165734800_bib128","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/ejhg.2010.175","article-title":"von Hippel\u2013Lindau disease: A clinical and scientific review","volume":"19","author":"Maher","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"2025110303165734800_bib129","first-page":"1","article-title":"On the shoulders of giants: the evolution of renal cell carcinoma treatment\u2013cytokines, targeted therapy, and immunotherapy","volume":"40","author":"Dutcher","year":"2020","journal-title":"Am Soc Clin Oncol Educ Book"},{"key":"2025110303165734800_bib130","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/s41585-019-0211-5","article-title":"The Cancer Genome Atlas of renal cell carcinoma: findings and clinical implications","volume":"16","author":"Linehan","year":"2019","journal-title":"Nat Rev Urol"},{"key":"2025110303165734800_bib131","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1038\/s41591-021-01324-7","article-title":"Inhibition of hypoxia-inducible factor-2\u03b1 in renal cell carcinoma with belzutifan: a phase 1 trial and biomarker analysis","volume":"27","author":"Choueiri","year":"2021","journal-title":"Nat Med"},{"issue":"Suppl 16","key":"2025110303165734800_bib132","doi-asserted-by":"crossref","first-page":"4509","DOI":"10.1200\/JCO.2022.40.16_suppl.4509","article-title":"Phase 1 LITESPARK-001 (MK-6482-001) study of belzutifan in advanced solid tumors: update of the clear cell renal cell carcinoma (ccRCC) cohort with more than 3 years of total follow-up","volume":"40","author":"Jonasch","year":"2022","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib133","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1056\/NEJMoa2103425","article-title":"Belzutifan for renal cell carcinoma in von Hippel-Lindau disease","volume":"385","author":"Jonasch","year":"2021","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib134","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1056\/NEJMoa2313906","article-title":"Belzutifan versus everolimus for advanced renal-cell carcinoma","volume":"391","author":"Choueiri","year":"2024","journal-title":"N Engl J Med"},{"issue":"Suppl 2","key":"2025110303165734800_bib135","doi-asserted-by":"crossref","first-page":"S1329","DOI":"10.1016\/j.annonc.2023.10.090","article-title":"LBA88 Belzutifan versus everolimus in participants (pts) with previously treated advanced clear cell renal cell carcinoma (ccRCC): randomized open-label phase III LITESPARK-005 study","volume":"34","author":"Albiges","year":"2023","journal-title":"Ann Oncol"},{"key":"2025110303165734800_bib136","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1001\/jama.1996.03540190047028","article-title":"The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: international RET mutation consortium analysis","volume":"276","author":"Eng","year":"1996","journal-title":"JAMA"},{"key":"2025110303165734800_bib137","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1002\/cncr.28661","article-title":"RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma","volume":"120","author":"Krampitz","year":"2014","journal-title":"Cancer"},{"key":"2025110303165734800_bib138","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1089\/thy.2014.0335","article-title":"Revised American thyroid association guidelines for the management of medullary thyroid carcinoma","volume":"25","author":"Wells","year":"2015","journal-title":"Thyroid"},{"key":"2025110303165734800_bib139","doi-asserted-by":"crossref","first-page":"L39","DOI":"10.1530\/ERC-17-0122","article-title":"Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study","volume":"24","author":"Mathiesen","year":"2017","journal-title":"Endocr Relat Cancer"},{"key":"2025110303165734800_bib140","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1158\/1078-0432.CCR-23-0459","article-title":"FDA approval summary: selpercatinib for the treatment of advanced RET fusion-positive solid tumors","volume":"29","author":"Duke","year":"2023","journal-title":"Clin Cancer Res"},{"key":"2025110303165734800_bib141","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1056\/NEJMoa2005651","article-title":"Efficacy of selpercatinib in RET-altered thyroid cancers","volume":"383","author":"Wirth","year":"2020","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib142","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1056\/NEJMoa2309719","article-title":"Phase 3 trial of selpercatinib in advanced RET-mutant medullary thyroid cancer","volume":"389","author":"Hadoux","year":"2023","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib143","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/S1470-2045(22)00541-1","article-title":"Tumour-agnostic efficacy and safety of selpercatinib in patients with RET fusion-positive solid tumours other than lung or thyroid tumours (LIBRETTO-001): a phase 1\/2, open-label, basket trial","volume":"23","author":"Subbiah","year":"2022","journal-title":"Lancet Oncol"},{"key":"2025110303165734800_bib144","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/S1470-2045(21)00247-3","article-title":"Pralsetinib for RET fusion-positive non-small-cell lung cancer (ARROW): a multi-cohort, open-label, phase 1\/2 study","volume":"22","author":"Gainor","year":"2021","journal-title":"Lancet Oncol"},{"key":"2025110303165734800_bib145","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1053\/j.seminoncol.2007.07.009","article-title":"Cowden syndrome","volume":"34","author":"Gustafson","year":"2007","journal-title":"Semin Oncol"},{"key":"2025110303165734800_bib146","first-page":"5667","article-title":"The PTEN\/MMAC1 tumor suppressor induces cell death that is rescued by the AKT\/protein kinase B oncogene","volume":"58","author":"Li","year":"1998","journal-title":"Cancer Res"},{"key":"2025110303165734800_bib147","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.chembiol.2017.10.009","article-title":"The therapeutic potential of PTEN modulation: targeting strategies from gene to protein","volume":"25","author":"McLoughlin","year":"2018","journal-title":"Cell Chem Biol"},{"key":"2025110303165734800_bib148","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ncponc1112","article-title":"Rapamycin treatment for a child with germline PTEN mutation","volume":"5","author":"Marsh","year":"2008","journal-title":"Nat Clin Pract Oncol"},{"key":"2025110303165734800_bib149","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2217\/fon.09.9","article-title":"Targeting the mTOR pathway using deforolimus in cancer therapy","volume":"5","author":"Mahalingam","year":"2009","journal-title":"Future Oncol"},{"key":"2025110303165734800_bib150","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.canlet.2010.11.012","article-title":"Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling","volume":"301","author":"He","year":"2011","journal-title":"Cancer Lett"},{"key":"2025110303165734800_bib151","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.2217\/fon-2022-0305","article-title":"A phase II study of TAS-117 in patients with advanced solid tumors harboring germline PTEN-inactivating mutations","volume":"18","author":"Rod\u00f3n","year":"2022","journal-title":"Future Oncol"},{"key":"2025110303165734800_bib152","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/GIM.0b013e318064e70c","article-title":"Indications for genetic referral: a guide for healthcare providers","volume":"9","author":"Pletcher","year":"2007","journal-title":"Genet Med"},{"key":"2025110303165734800_bib153","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1200\/JCO.1996.14.5.1730","article-title":"Statement of the American Society of Clinical Oncology. Genetic testing for cancer susceptibility, Adopted on February 20, 1996","volume":"14","year":"1996","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib154","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain-terminating inhibitors","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025110303165734800_bib155","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/nrg3463","article-title":"Disease-targeted sequencing: a cornerstone in the clinic","volume":"14","author":"Rehm","year":"2013","journal-title":"Nat Rev Genet"},{"key":"2025110303165734800_bib156","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1093\/jnci\/89.23.1758","article-title":"A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines","volume":"89","author":"Rodriguez-Bigas","year":"1997","journal-title":"J Natl Cancer Inst"},{"key":"2025110303165734800_bib157","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/BF02053699","article-title":"The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)","volume":"34","author":"Vasen","year":"1991","journal-title":"Dis Colon Rectum"},{"key":"2025110303165734800_bib158","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1038\/76469","article-title":"Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays","volume":"18","author":"Brenner","year":"2000","journal-title":"Nat Biotechnol"},{"key":"2025110303165734800_bib159","first-page":"177","article-title":"Next-generation sequencing for cancer diagnostics: a practical perspective","volume":"32","author":"Meldrum","year":"2011","journal-title":"Clin Biochem Rev"},{"key":"2025110303165734800_bib160","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1200\/JCO.2013.49.7388","article-title":"Gene patents and personalized cancer care: impact of the Myriad case on clinical oncology","volume":"31","author":"Offit","year":"2013","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib161","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1038\/gim.2014.40","article-title":"Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients","volume":"16","author":"LaDuca","year":"2014","journal-title":"Genet Med"},{"key":"2025110303165734800_bib162","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jamaoncol.2015.2690","article-title":"Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment","volume":"1","author":"Desmond","year":"2015","journal-title":"JAMA Oncol"},{"key":"2025110303165734800_bib163","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","article-title":"Gene-panel sequencing and the prediction of breast-cancer risk","volume":"372","author":"Easton","year":"2015","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib164","unstructured":"National Comprehensive Cancer Network\n          . Genetic\/Familial high-risk assessment: breast, ovarian, pancreatic, and prostate (version 3.2025). [cited 2025 July 7]. Available from:https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_bopp.pdf."},{"key":"2025110303165734800_bib165","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/cncr.35239","article-title":"FDA authorizes blood test for risk assessment of hereditary cancers","volume":"130","author":"Nierengarten","year":"2024","journal-title":"Cancer"},{"key":"2025110303165734800_bib166","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1053\/j.gastro.2014.11.042","article-title":"Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer","volume":"148","author":"Grant","year":"2015","journal-title":"Gastroenterology"},{"key":"2025110303165734800_bib167","doi-asserted-by":"crossref","first-page":"e000592","DOI":"10.1136\/bmjonc-2024-000592","article-title":"UK-based clinical testing programme for somatic and germline BRCA1\/2, ATM and CDK12 mutations in prostate cancer: first results","volume":"4","author":"Evans","year":"2025","journal-title":"BMJ Oncol"},{"key":"2025110303165734800_bib168","doi-asserted-by":"crossref","first-page":"e000717","DOI":"10.1136\/bmjonc-2024-000717","article-title":"Evaluating the genetic landscape of prostate cancer: new insights from BRCA1\/2, ATM and CDK12 mutations","volume":"4","author":"Urabe","year":"2025","journal-title":"BMJ Oncol"},{"key":"2025110303165734800_bib169","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1093\/jnci\/djy148","article-title":"BRCA1 and BRCA2 gene mutations and colorectal cancer risk: systematic review and meta-analysis","volume":"110","author":"Oh","year":"2018","journal-title":"J Natl Cancer Inst"},{"key":"2025110303165734800_bib170","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1186\/s12885-023-11328-w","article-title":"BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis","volume":"23","author":"Feng","year":"2023","journal-title":"BMC Cancer"},{"key":"2025110303165734800_bib171","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2174\/0115748871260815231116060817","article-title":"PARP inhibitors in colorectal malignancies: a 2023 update","volume":"19","author":"Skouteris","year":"2024","journal-title":"Rev Recent Clin Trials"},{"key":"2025110303165734800_bib172","doi-asserted-by":"crossref","first-page":"e2100560","DOI":"10.1200\/PO.21.00560","article-title":"Concurrent germline BRCA1\/2 and mismatch repair mutations in young-onset pancreatic and colorectal cancer: the importance of comprehensive germline and somatic characterization to inform therapeutic options","volume":"6","author":"Ozer","year":"2022","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib173","doi-asserted-by":"crossref","first-page":"5274","DOI":"10.1200\/JCO.23.01372","article-title":"Germline EGFR mutations and familial lung cancer","volume":"41","author":"Oxnard","year":"2023","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib174","doi-asserted-by":"crossref","first-page":"e2213070","DOI":"10.1001\/jamanetworkopen.2022.13070","article-title":"Prevalence of germline findings among tumors from cancer types lacking hereditary testing guidelines","volume":"5","author":"Yap","year":"2022","journal-title":"JAMA Netw Open"},{"key":"2025110303165734800_bib175","doi-asserted-by":"crossref","first-page":"3100","DOI":"10.1200\/JCO.22.02833","article-title":"Universal germline and tumor genomic testing needed to win the war against cancer: genomics is the diagnosis","volume":"41","author":"Subbiah","year":"2023","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib176","doi-asserted-by":"crossref","first-page":"e2232787","DOI":"10.1001\/jamanetworkopen.2022.32787","article-title":"Clinical utility of universal germline genetic testing for patients with breast cancer","volume":"5","author":"Whitworth","year":"2022","journal-title":"JAMA Netw Open"},{"key":"2025110303165734800_bib177","doi-asserted-by":"crossref","first-page":"e2200517","DOI":"10.1200\/PO.22.00517","article-title":"Multigene panel testing yields high rates of clinically actionable variants among patients with colorectal cancer","volume":"6","author":"Coughlin","year":"2022","journal-title":"Cancer JCO Precis Oncol"},{"key":"2025110303165734800_bib178","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.euo.2023.07.008","article-title":"Efficacy of national comprehensive cancer Network guidelines in identifying pathogenic germline variants among unselected patients with prostate cancer: the PROCLAIM trial","volume":"6","author":"Shore","year":"2023","journal-title":"Eur Urol Oncol"},{"key":"2025110303165734800_bib179","doi-asserted-by":"crossref","first-page":"3001","DOI":"10.1093\/hmg\/ddac089","article-title":"Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases","volume":"31","author":"Yngvadottir","year":"2022","journal-title":"Hum Mol Genet"},{"key":"2025110303165734800_bib180","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1200\/JCO.18.01631","article-title":"Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle?","volume":"37","author":"Beitsch","year":"2019","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib181","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1056\/NEJMoa1603144","article-title":"Inherited DNA-repair gene mutations in men with metastatic prostate cancer","volume":"375","author":"Pritchard","year":"2016","journal-title":"N Engl J Med"},{"key":"2025110303165734800_bib182","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1200\/JCO.18.00283","article-title":"Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer","volume":"37","author":"Latham","year":"2019","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib183","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1001\/jama.2017.11137","article-title":"Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing","volume":"318","author":"Mandelker","year":"2017","journal-title":"JAMA"},{"key":"2025110303165734800_bib184","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1001\/jamaoncol.2020.6252","article-title":"Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome","volume":"7","author":"Samadder","year":"2021","journal-title":"JAMA Oncol"},{"key":"2025110303165734800_bib185","doi-asserted-by":"crossref","first-page":"e2114753","DOI":"10.1001\/jamanetworkopen.2021.14753","article-title":"Prevalence of germline alterations on targeted tumor-normal sequencing of esophagogastric cancer","volume":"4","author":"Ku","year":"2021","journal-title":"JAMA Netw Open"},{"key":"2025110303165734800_bib186","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1200\/JCO.19.01395","article-title":"Cancer susceptibility mutations in patients with urothelial malignancies","volume":"38","author":"Carlo","year":"2020","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib187","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1001\/jamaoncol.2018.6760","article-title":"Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines","volume":"5","author":"Nicolosi","year":"2019","journal-title":"JAMA Oncol"},{"issue":"Suppl 15","key":"2025110303165734800_bib188","doi-asserted-by":"crossref","first-page":"10504","DOI":"10.1200\/JCO.2021.39.15_suppl.10504","article-title":"Underdiagnosis of germline genetic prostate cancer: are genetic testing guidelines an aid or an impediment?","volume":"39","author":"Esplin","year":"2021","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib189","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1001\/jamaoncol.2018.1986","article-title":"Prevalence of germline mutations in cancer susceptibility genes in patients with advanced renal cell carcinoma","volume":"4","author":"Carlo","year":"2018","journal-title":"JAMA Oncol"},{"key":"2025110303165734800_bib190","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1200\/PO.21.00079","article-title":"Multigene panel testing in individuals with hepatocellular carcinoma identifies pathogenic germline variants","volume":"5","author":"Mezina","year":"2021","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib191","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/s41586-020-1969-6","article-title":"Pan-cancer analysis of whole genomes","volume":"578","author":"Aaltonen","year":"2020","journal-title":"Nature"},{"issue":"Suppl 15","key":"2025110303165734800_bib192","doi-asserted-by":"crossref","first-page":"e13013","DOI":"10.1200\/JCO.2019.37.15_suppl.e13013","article-title":"Comprehensive germline panel testing across cancer types: diagnostic yield and clinical utility in 100,000 patient dataset","volume":"37","author":"Yang","year":"2019","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib193","unstructured":"Tempus AI Inc\n          . Tempus completes acquisition of Ambry genetics. [cited July 7, 2025]. Available from:https:\/\/www.tempus.com\/news\/acquisition-of-ambry-genetics\/?srsltid=AfmBOoo5E2bytvG8QqU76zfzFCev97teJ5JodM8zA0Zgy6OpkedZ-Wos."},{"key":"2025110303165734800_bib194","doi-asserted-by":"crossref","first-page":"6106","DOI":"10.1158\/1078-0432.CCR-21-1104","article-title":"Patients with biallelic BRCA1\/2 inactivation respond to olaparib treatment across histologic tumor types","volume":"27","author":"van der Wijngaart","year":"2021","journal-title":"Clin Cancer Res"},{"key":"2025110303165734800_bib195","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1016\/j.annonc.2021.08.2154","article-title":"Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD","volume":"32","author":"Hodgson","year":"2021","journal-title":"Ann Oncol"},{"key":"2025110303165734800_bib196","doi-asserted-by":"crossref","first-page":"3763","DOI":"10.1200\/JCO.20.01035","article-title":"Rucaparib in men with metastatic castration-resistant prostate cancer harboring a BRCA1 or BRCA2 gene alteration","volume":"38","author":"Abida","year":"2020","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib197","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1200\/JCO.23.00339","article-title":"Olaparib for the treatment of patients with metastatic castration-resistant prostate cancer and alterations in BRCA1 and\/or BRCA2 in the PROfound trial","volume":"42","author":"Mateo","year":"2024","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib198","doi-asserted-by":"crossref","first-page":"e2300036","DOI":"10.1200\/PO.23.00036","article-title":"Biallelic BRCA loss and homologous recombination deficiency in nonbreast\/ovarian tumors in germline BRCA1\/2 carriers","volume":"7","author":"Wineland","year":"2023","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib199","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1038\/s41591-023-02399-0","article-title":"Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results","volume":"29","author":"Yap","year":"2023","journal-title":"Nat Med"},{"issue":"Suppl 16","key":"2025110303165734800_bib200","doi-asserted-by":"crossref","first-page":"10591","DOI":"10.1200\/JCO.2022.40.16_suppl.10591","article-title":"Oncologist knowledge of cost of genetic testing","volume":"40","author":"Weiner","year":"2022","journal-title":"J Clin Oncol"},{"key":"2025110303165734800_bib201","doi-asserted-by":"crossref","first-page":"e2100516","DOI":"10.1200\/PO.21.00516","article-title":"Universal germline genetic testing for hereditary cancer syndromes in patients with solid tumor cancer","volume":"6","author":"Esplin","year":"2022","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib202","doi-asserted-by":"crossref","first-page":"2925","DOI":"10.1245\/s10434-018-6621-4","article-title":"Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: genetic testing criteria miss the mark","volume":"25","author":"Yang","year":"2018","journal-title":"Ann Surg Oncol"},{"key":"2025110303165734800_bib203","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1200\/JOP.2016.013581","article-title":"Impact of payer constraints on access to genetic testing","volume":"13","author":"Whitworth","year":"2017","journal-title":"J Oncol Pract"},{"key":"2025110303165734800_bib204","doi-asserted-by":"crossref","first-page":"e2300440","DOI":"10.1200\/PO.23.00440","article-title":"Exploring stakeholders' perspectives on implementing universal germline testing for colorectal cancer: findings from a clinical practice survey","volume":"7","author":"Rodgers-Fouche","year":"2023","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib205","doi-asserted-by":"crossref","first-page":"e2100409","DOI":"10.1200\/PO.21.00409","article-title":"Mainstreaming genetic testing for epithelial ovarian cancer by oncology providers: a survey of current practice","volume":"6","author":"Czekalski","year":"2022","journal-title":"JCO Precis Oncol"},{"key":"2025110303165734800_bib206","first-page":"1","article-title":"Genetic testing for all: overcoming disparities in ovarian cancer genetic testing","volume":"42","author":"Frey","year":"2022","journal-title":"Am Soc Clin Oncol Educ Book"},{"key":"2025110303165734800_bib207","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1001\/jama.293.14.1729","article-title":"Racial differences in the use of BRCA1\/2 testing among women with a family history of breast or ovarian cancer","volume":"293","author":"Armstrong","year":"2005","journal-title":"JAMA"},{"key":"2025110303165734800_bib208","doi-asserted-by":"crossref","first-page":"i60","DOI":"10.1093\/annonc\/mdq668","article-title":"Social and ethical implications of BRCA testing","volume":"22","author":"Surbone","year":"2011","journal-title":"Ann Oncol"},{"key":"2025110303165734800_bib209","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1080\/14737159.2017.1316665","article-title":"Ethical considerations surrounding germline next-generation sequencing of children with cancer","volume":"17","author":"Johnson","year":"2017","journal-title":"Expert Rev Mol Diagn"},{"key":"2025110303165734800_bib210","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/pon.933","article-title":"Psychological impact of genetic testing for cancer susceptibility: an update of the literature","volume":"14","author":"Meiser","year":"2005","journal-title":"Psychooncology"},{"key":"2025110303165734800_bib211","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1177\/1073110520916994","article-title":"From genetics to genomics: facing the liability implications in clinical care","volume":"48","author":"Marchant","year":"2020","journal-title":"J Law Med Ethics"},{"key":"2025110303165734800_bib212","first-page":"87","article-title":"Key expert stakeholder perceptions of the law of genomics: identified problems and potential solutions","volume":"48","author":"Cheung","year":"2020","journal-title":"J ; Med Ethics"}],"container-title":["Cancer Discovery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/aacrjournals.org\/cancerdiscovery\/article-pdf\/15\/11\/2213\/3664638\/cd-24-1241.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/aacrjournals.org\/cancerdiscovery\/article-pdf\/15\/11\/2213\/3664638\/cd-24-1241.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T08:17:42Z","timestamp":1762157862000},"score":1,"resource":{"primary":{"URL":"https:\/\/aacrjournals.org\/cancerdiscovery\/article\/15\/11\/2213\/766783\/Germline-Mutations-as-Cancer-Drug-TargetsGermline"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,3]]},"references-count":212,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,3]]},"published-print":{"date-parts":[[2025,11,3]]}},"URL":"https:\/\/doi.org\/10.1158\/2159-8290.cd-24-1241","relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.1158\/2159-8290.30516702","asserted-by":"object"},{"id-type":"doi","id":"10.1158\/2159-8290.30516699","asserted-by":"object"}],"has-preprint":[{"id-type":"doi","id":"10.1158\/2159-8290.c.8126025","asserted-by":"object"}]},"ISSN":["2159-8274","2159-8290"],"issn-type":[{"value":"2159-8274","type":"print"},{"value":"2159-8290","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,3]]}}}