{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T13:16:27Z","timestamp":1785762987583,"version":"3.56.0"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.bpobgyn.2022.01.007","type":"journal-article","created":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T00:35:19Z","timestamp":1643589319000},"page":"3-11","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"special_numbering":"C","title":["Cancer genetics and breast cancer"],"prefix":"10.1016","volume":"82","author":[{"given":"Kathryn J.","family":"Huber-Keener","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.bpobgyn.2022.01.007_bib1","first-page":"7","article-title":"Cancer statistics, 2021","volume":"71","author":"Siegel","year":"2021","journal-title":"CA A Cancer J Clin"},{"issue":"10","key":"10.1016\/j.bpobgyn.2022.01.007_bib2","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1158\/1055-9965.EPI-15-0535","article-title":"International variation in female breast cancer incidence and mortality rates","volume":"24","author":"DeSantis","year":"2015","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"1","key":"10.1016\/j.bpobgyn.2022.01.007_bib3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/cncr.29010","article-title":"Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel","volume":"121","author":"Tung","year":"2015","journal-title":"Cancer"},{"issue":"38","key":"10.1016\/j.bpobgyn.2022.01.007_bib4","doi-asserted-by":"crossref","first-page":"6445","DOI":"10.1038\/sj.onc.1207714","article-title":"Highly penetrant hereditary cancer syndromes","volume":"23","author":"Nagy","year":"2004","journal-title":"Oncogene"},{"issue":"1","key":"10.1016\/j.bpobgyn.2022.01.007_bib5","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13073-019-0688-9","article-title":"Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar","volume":"11","author":"Harrison","year":"2019","journal-title":"Genome Med"},{"issue":"5","key":"10.1016\/j.bpobgyn.2022.01.007_bib6","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/j.1471-0528.1998.tb10148.x","article-title":"A\u00a0systematic review and meta-analysis of family history and risk of ovarian cancer","volume":"105","author":"Stratton","year":"1998","journal-title":"Br J Obstet Gynaecol"},{"key":"10.1016\/j.bpobgyn.2022.01.007_bib7","first-page":"1","article-title":"Cancer syndromes","author":"Family","year":"2020","journal-title":"Am Cancer Soc Editor Team"},{"key":"10.1016\/j.bpobgyn.2022.01.007_bib8","article-title":"Genetic\/familial high-risk assessment: breast, ovarian, and pancreatic. Version 2.2021","author":"Network","year":"2021","journal-title":"NCCN Clin Pract Guidel Oncol"},{"issue":"23","key":"10.1016\/j.bpobgyn.2022.01.007_bib9","doi-asserted-by":"crossref","first-page":"3673","DOI":"10.1002\/cncr.30248","article-title":"Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort","volume":"122","author":"Mai","year":"2016","journal-title":"Cancer"},{"issue":"4","key":"10.1016\/j.bpobgyn.2022.01.007_bib10","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmedgenet-2012-101339","article-title":"High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome","volume":"50","author":"Bubien","year":"2013","journal-title":"J\u00a0Med Genet"},{"issue":"10","key":"10.1016\/j.bpobgyn.2022.01.007_bib11","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1054\/bjoc.2000.1407","article-title":"Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group","volume":"83","year":"2000","journal-title":"Br J Cancer"},{"issue":"5182","key":"10.1016\/j.bpobgyn.2022.01.007_bib12","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","article-title":"A\u00a0strong candidate for the breast and ovarian cancer susceptibility gene BRCA1","volume":"266","author":"Miki","year":"1994","journal-title":"Science"},{"issue":"6559","key":"10.1016\/j.bpobgyn.2022.01.007_bib13","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"},{"issue":"34","key":"10.1016\/j.bpobgyn.2022.01.007_bib14","doi-asserted-by":"crossref","first-page":"4183","DOI":"10.1200\/JCO.2016.67.0554","article-title":"Population frequency of germline BRCA1\/2 mutations","volume":"34","author":"Maxwell","year":"2016","journal-title":"J\u00a0Clin Oncol"},{"issue":"4","key":"10.1016\/j.bpobgyn.2022.01.007_bib15","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1086\/302320","article-title":"The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews","volume":"64","author":"Hartge","year":"1999","journal-title":"Am J Hum Genet"},{"issue":"23","key":"10.1016\/j.bpobgyn.2022.01.007_bib16","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1001\/jama.2017.7112","article-title":"Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers","volume":"317","author":"Kuchenbaecker","year":"2017","journal-title":"JAMA"},{"issue":"7","key":"10.1016\/j.bpobgyn.2022.01.007_bib17","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1158\/0008-5472.CAN-12-1699","article-title":"Genetic susceptibility to triple-negative breast cancer","volume":"73","author":"Stevens","year":"2013","journal-title":"Cancer Res"},{"issue":"5","key":"10.1016\/j.bpobgyn.2022.01.007_bib18","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1158\/1078-0432.CCR-10-2560","article-title":"Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer","volume":"17","author":"Gonzalez-Angulo","year":"2011","journal-title":"Clin Cancer Res"},{"issue":"2","key":"10.1016\/j.bpobgyn.2022.01.007_bib19","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1056\/NEJM199901143400201","article-title":"Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer","volume":"340","author":"Hartmann","year":"1999","journal-title":"N\u00a0Engl J Med"},{"issue":"2","key":"10.1016\/j.bpobgyn.2022.01.007_bib20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1001\/jamasurg.2017.3422","article-title":"Oncologic safety of prophylactic nipple-sparing mastectomy in a population with BRCA mutations: a multi-institutional study","volume":"153","author":"Jakub","year":"2018","journal-title":"JAMA Surg"},{"issue":"12","key":"10.1016\/j.bpobgyn.2022.01.007_bib21","doi-asserted-by":"crossref","DOI":"10.3390\/cancers10120477","article-title":"Screening BRCA1 and BRCA2 mutation carriers for breast cancer","volume":"10","author":"Warner","year":"2018","journal-title":"Cancers"},{"issue":"1","key":"10.1016\/j.bpobgyn.2022.01.007_bib22","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.ygyno.2017.04.013","article-title":"Managing hereditary breast cancer risk in women with and without ovarian cancer","volume":"146","author":"Peters","year":"2017","journal-title":"Gynecol Oncol"},{"issue":"2","key":"10.1016\/j.bpobgyn.2022.01.007_bib23","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/s10549-020-06072-9","article-title":"Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers","volume":"187","author":"Stjepanovic","year":"2021","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"10.1016\/j.bpobgyn.2022.01.007_bib24","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.mric.2013.04.001","article-title":"Screening MR imaging versus screening ultrasound: pros and cons","volume":"21","author":"Mahoney","year":"2013","journal-title":"Magn Reson Imag Clin N Am"},{"issue":"2","key":"10.1016\/j.bpobgyn.2022.01.007_bib25","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1093\/jnci\/djn442","article-title":"Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers","volume":"101","author":"Rebbeck","year":"2009","journal-title":"J\u00a0Natl Cancer Inst"},{"issue":"18","key":"10.1016\/j.bpobgyn.2022.01.007_bib26","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1001\/jama.286.18.2251","article-title":"Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: national surgical adjuvant breast and bowel project (NSABP-P1) breast cancer prevention trial","volume":"286","author":"King","year":"2001","journal-title":"JAMA"},{"issue":"9245","key":"10.1016\/j.bpobgyn.2022.01.007_bib27","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1016\/S0140-6736(00)03258-X","article-title":"Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group","volume":"356","author":"Narod","year":"2000","journal-title":"Lancet"},{"issue":"10","key":"10.1016\/j.bpobgyn.2022.01.007_bib28","first-page":"2984","article-title":"Inherited p53 gene mutations in breast cancer","volume":"52","author":"Sidransky","year":"1992","journal-title":"Cancer Res"},{"issue":"4","key":"10.1016\/j.bpobgyn.2022.01.007_bib29","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/cncr.26377","article-title":"Early onset HER2-positive breast cancer is associated with germline TP53 mutations","volume":"118","author":"Melhem-Bertrandt","year":"2012","journal-title":"Cancer"},{"issue":"4","key":"10.1016\/j.bpobgyn.2022.01.007_bib30","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1007\/s10689-012-9557-z","article-title":"Routine TP53 testing for breast cancer under age 30: ready for prime time?","volume":"11","author":"McCuaig","year":"2012","journal-title":"Fam Cancer"},{"issue":"11","key":"10.1016\/j.bpobgyn.2022.01.007_bib31","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1002\/cncr.21040","article-title":"The risk of developing second cancers among survivors of childhood soft tissue sarcoma","volume":"103","author":"Cohen","year":"2005","journal-title":"Cancer"},{"issue":"12","key":"10.1016\/j.bpobgyn.2022.01.007_bib32","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1136\/jmedgenet-2019-105991","article-title":"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria","volume":"56","author":"Xicola","year":"2019","journal-title":"J\u00a0Med Genet"},{"issue":"17","key":"10.1016\/j.bpobgyn.2022.01.007_bib33","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive cancer associations in patients with neurofibromatosis type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J\u00a0Clin Oncol"},{"issue":"6","key":"10.1016\/j.bpobgyn.2022.01.007_bib34","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\u00a0Engl J Med"},{"key":"10.1016\/j.bpobgyn.2022.01.007_bib35","article-title":"Genetic\/familial high-risk assessment: colorectal","author":"Network","year":"2021","journal-title":"NCCN Clin Pract Guidel Oncol"},{"issue":"2","key":"10.1016\/j.bpobgyn.2022.01.007_bib36","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/cge.12710","article-title":"Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline","volume":"90","author":"van Os","year":"2016","journal-title":"Clin Genet"},{"issue":"5","key":"10.1016\/j.bpobgyn.2022.01.007_bib37","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/gepi.21971","article-title":"Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk","volume":"40","author":"Marabelli","year":"2016","journal-title":"Genet Epidemiol"},{"issue":"8","key":"10.1016\/j.bpobgyn.2022.01.007_bib38","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1093\/jnci\/djy106","article-title":"Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing","volume":"110","author":"Shimelis","year":"2018","journal-title":"J\u00a0Natl Cancer Inst"},{"issue":"6","key":"10.1016\/j.bpobgyn.2022.01.007_bib39","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/jmedgenet-2015-103094","article-title":"Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers","volume":"52","author":"van der Post","year":"2015","journal-title":"J\u00a0Med Genet"},{"issue":"8","key":"10.1016\/j.bpobgyn.2022.01.007_bib40","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/jmg.2007.049346","article-title":"Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening","volume":"44","author":"Sharif","year":"2007","journal-title":"J\u00a0Med Genet"},{"issue":"7","key":"10.1016\/j.bpobgyn.2022.01.007_bib41","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\u00a0Clin Oncol"},{"issue":"4","key":"10.1016\/j.bpobgyn.2022.01.007_bib42","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1200\/JCO.2007.12.5922","article-title":"CHEK2\u22171100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls","volume":"26","author":"Weischer","year":"2008","journal-title":"J\u00a0Clin Oncol"},{"issue":"23","key":"10.1016\/j.bpobgyn.2022.01.007_bib43","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1200\/JCO.2016.66.5844","article-title":"Age- and tumor subtype-specific breast cancer risk estimates for CHEK2\u22171100delC carriers","volume":"34","author":"Schmidt","year":"2016","journal-title":"J\u00a0Clin Oncol"}],"container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693422000165?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693422000165?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T17:13:40Z","timestamp":1761498820000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521693422000165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":43,"alternative-id":["S1521693422000165"],"URL":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2022.01.007","relation":{},"ISSN":["1521-6934"],"issn-type":[{"value":"1521-6934","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cancer genetics and breast cancer","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Obstetrics & Gynaecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2022.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}