{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T04:20:52Z","timestamp":1754108452392,"version":"3.37.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin J Gastroenterol"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1007\/s12328-023-01772-3","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T22:19:12Z","timestamp":1676672352000},"page":"470-475","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of unresectable intrahepatic cholangiocarcinoma with a germline BRCA1 mutation"],"prefix":"10.1007","volume":"16","author":[{"given":"Yumiko","family":"Yamashita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3545-8743","authenticated-orcid":false,"given":"Yasutaka","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Serikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomofumi","family":"Tsuboi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumiko","family":"Tatsukawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinya","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuro","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juri","family":"Ikemoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Oka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,2,17]]},"reference":[{"key":"1772_CR1","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.soc.2013.10.004","volume":"23","author":"KM Brown","year":"2014","unstructured":"Brown KM, Parmar AD, Geller DA. Intrahepatic cholangiocarcinoma. Surg Oncol Clin N Am. 2014;23:231\u201346.","journal-title":"Surg Oncol Clin N Am"},{"key":"1772_CR2","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1056\/NEJMoa0908721","volume":"362","author":"J Valle","year":"2010","unstructured":"Valle J, Wasan H, Palmer DH, et al. Cisplatin plus gemcitabine versus gemcitabine for biliary tract cancer. N Engl J Med. 2010;362:1273\u201381.","journal-title":"N Engl J Med"},{"key":"1772_CR3","doi-asserted-by":"publisher","first-page":"1950","DOI":"10.1093\/annonc\/mdz402","volume":"30","author":"C Morizane","year":"2019","unstructured":"Morizane C, Okusaka T, Mizusawa J, et al. Combination gemcitabine plus S-1 versus gemcitabine plus cisplatin for advanced\/recurrent biliary tract cancer: the FUGA-BT (JCOG1113) randomized phase III clinical trial. Ann Oncol. 2019;30:1950\u20138.","journal-title":"Ann Oncol"},{"key":"1772_CR4","doi-asserted-by":"publisher","DOI":"10.1002\/jhbp.1219","author":"T Ioka","year":"2022","unstructured":"Ioka T, Kanai M, Kobayashi S, et al. Randomized phase III study of gemcitabine, cisplatin plus S-1 versus gemcitabine, cisplatin for advanced biliary tract cancer (KHBO1401- MITSUBA). J Hepatobiliary Pancreat Sci. 2022. https:\/\/doi.org\/10.1002\/jhbp.1219.","journal-title":"J Hepatobiliary Pancreat Sci"},{"key":"1772_CR5","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1158\/1078-0432.CCR-14-3296","volume":"22","author":"A Moeini","year":"2016","unstructured":"Moeini A, Sia D, Bardeesy N, et al. Molecular pathogenesis and targeted therapies for intrahepatic cholangiocarcinoma. Clin Cancer Res. 2016;22:291\u2013300.","journal-title":"Clin Cancer Res"},{"key":"1772_CR6","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1007\/s11864-016-0432-2","volume":"11","author":"A Jain","year":"2016","unstructured":"Jain A, Kwong LN, Javle M. Genomic profiling of biliary tract cancers and implications for clinical practice. Curr Treat Options Oncol. 2016;11:58.","journal-title":"Curr Treat Options Oncol"},{"key":"1772_CR7","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1158\/2159-8290.CD-17-0368","volume":"7","author":"A Jusakul","year":"2017","unstructured":"Jusakul A, Cutcutache I, Yong CH, et al. Whole-genome and epigenomic landscapes of etiologically distinct subtypes of cholangiocarcinoma. Cancer Discov. 2017;7:1116\u201335.","journal-title":"Cancer Discov"},{"key":"1772_CR8","doi-asserted-by":"publisher","first-page":"1995","DOI":"10.1002\/cncr.32740","volume":"126","author":"H Maynard","year":"2020","unstructured":"Maynard H, Stadler ZK, Berger MF, et al. Germline alterations in patients with biliary tract cancers: a spectrum of significant and previously underappreciated findings. Cancer. 2020;126:1995\u20132002.","journal-title":"Cancer"},{"key":"1772_CR9","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1016\/j.jhep.2018.01.009","volume":"68","author":"CP Wardell","year":"2018","unstructured":"Wardell CP, Fujita M, Yamada T, et al. Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. J Hepatol. 2018;68:959\u201369.","journal-title":"J Hepatol"},{"issue":"22","key":"1772_CR10","first-page":"03137","volume":"S0168\u20138278","author":"Y Okawa","year":"2022","unstructured":"Okawa Y, Iwasaki Y, Johnson TA, et al. Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer. J Hepatol. 2022;S0168\u20138278(22):03137\u201343.","journal-title":"J Hepatol"},{"key":"1772_CR11","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s10689-006-9105-9","volume":"6","author":"M Vernez","year":"2007","unstructured":"Vernez M, Hutter P, Monnerat C, et al. A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. Fam Cancer. 2007;6:141\u20135.","journal-title":"Fam Cancer"},{"key":"1772_CR12","doi-asserted-by":"publisher","first-page":"5957","DOI":"10.2147\/OTT.S176914","volume":"11","author":"Y Cheng","year":"2018","unstructured":"Cheng Y, Zhang J, Qin SK, et al. Treatment with olaparib monotherapy for BRCA2-mutated refractory intrahepatic cholangiocarcinoma: a case report. Onco Targets Ther. 2018;11:5957\u201362.","journal-title":"Onco Targets Ther"},{"key":"1772_CR13","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.cancergen.2020.10.001","volume":"248\u2013249","author":"G Brandi","year":"2020","unstructured":"Brandi G, Deserti M, Palloni A, et al. Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos. Cancer Genet. 2020;248\u2013249:57\u201362.","journal-title":"Cancer Genet"},{"key":"1772_CR14","volume":"14","author":"O Rehman","year":"2022","unstructured":"Rehman O, Sackfield B, Thoguluva Chandrasekar V, et al. A case report of CHEK2 and MUTYH germline mutations associated with cholangiocarcinoma in a young patient. Cureus. 2022;14: e22631.","journal-title":"Cureus"},{"key":"1772_CR15","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.933943","volume":"12","author":"T Zhou","year":"2022","unstructured":"Zhou T, Mahn R, M\u00f6hring C, et al. Case report: sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate. Front Oncol. 2022;12: 933943.","journal-title":"Front Oncol"},{"key":"1772_CR16","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1200\/JCO.2006.09.1066","volume":"25","author":"S Chen","year":"2007","unstructured":"Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329\u201333.","journal-title":"J Clin Oncol"},{"key":"1772_CR17","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1200\/EDBK_238977","volume":"39","author":"R Pilarski","year":"2019","unstructured":"Pilarski R. The role of BRCA testing in hereditary pancreatic and prostate cancer families. Am Soc Clin Oncol Educ Book. 2019;39:79\u201386.","journal-title":"Am Soc Clin Oncol Educ Book"},{"key":"1772_CR18","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1093\/jnci\/91.15.1310","volume":"91","author":"Breast Cancer Linkage Consortium","year":"1999","unstructured":"Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91:1310\u20136.","journal-title":"J Natl Cancer Inst"},{"key":"1772_CR19","doi-asserted-by":"publisher","first-page":"4701","DOI":"10.1158\/1078-0432.CCR-19-0127","volume":"25","author":"J Lin","year":"2019","unstructured":"Lin J, Shi J, Guo H, et al. Alterations in DNA damage repair genes in primary liver cancer. Clin Cancer Res. 2019;25:4701\u201311.","journal-title":"Clin Cancer Res"},{"key":"1772_CR20","doi-asserted-by":"publisher","first-page":"5949","DOI":"10.18632\/oncotarget.27224","volume":"10","author":"T Terashima","year":"2019","unstructured":"Terashima T, Umemoto K, Takahashi H, et al. Germline mutations in cancer-predisposition genes in patients with biliary tract cancer. Oncotarget. 2019;10:5949\u201357.","journal-title":"Oncotarget"},{"key":"1772_CR21","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1038\/s41591-020-1063-5","volume":"26","author":"Y Nakamura","year":"2020","unstructured":"Nakamura Y, Taniguchi H, Ikeda M, et al. Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies. Nat Med. 2020;26:1859\u201364.","journal-title":"Nat Med"},{"key":"1772_CR22","unstructured":"National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology\u2014Genetic\/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2023. https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_bop.pdf. Accessed 7 Sept 2022"},{"key":"1772_CR23","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1136\/gutjnl-2019-319352","volume":"69","author":"M Goggins","year":"2020","unstructured":"Goggins M, Overbeek KA, Brand R, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020;69:7\u201317.","journal-title":"Gut"},{"key":"1772_CR24","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1093\/annonc\/mdy209","volume":"29","author":"J Zhang","year":"2018","unstructured":"Zhang J, Lin Y, Sun XJ, et al. Biomarker assessment of the CBCSG006 trial: a randomized phase III trial of cisplatin plus gemcitabine compared with paclitaxel plus gemcitabine as first-line therapy for patients with metastatic triple-negative breast cancer. Ann Oncol. 2018;29:1741\u20137.","journal-title":"Ann Oncol"},{"key":"1772_CR25","doi-asserted-by":"publisher","first-page":"1378","DOI":"10.1200\/JCO.19.02931","volume":"38","author":"EM O'Reilly","year":"2020","unstructured":"O\u2019Reilly EM, Lee JW, Zalupski M, et al. Randomized, multicenter, phase II trial of gemcitabine and cisplatin with or without veliparib in patients with pancreas adenocarcinoma and a germline BRCA\/PALB2 mutation. J Clin Oncol. 2020;38:1378\u201388.","journal-title":"J Clin Oncol"},{"key":"1772_CR26","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1056\/NEJMoa1706450","volume":"377","author":"M Robson","year":"2017","unstructured":"Robson M, Im SA, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377:523\u201333.","journal-title":"N Engl J Med"},{"key":"1772_CR27","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1056\/NEJMoa1810858","volume":"37","author":"K Moore","year":"2018","unstructured":"Moore K, Colombo N, Scambia G, et al. Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer. N Engl J Med. 2018;37:2495\u2013505.","journal-title":"N Engl J Med"},{"key":"1772_CR28","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1056\/NEJMoa1903387","volume":"381","author":"T Golan","year":"2019","unstructured":"Golan T, Hammel P, Reni M, et al. Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer. N Engl J Med. 2019;381:317\u201327.","journal-title":"N Engl J Med"},{"key":"1772_CR29","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1634\/theoncologist.2016-0415","volume":"22","author":"T Golan","year":"2017","unstructured":"Golan T, Raitses-Gurevich M, Kelley RK, et al. Overall survival and clinical characteristics of BRCA-associated cholangiocarcinoma: a multicenter retrospective study. Oncologist. 2017;22:804\u201310.","journal-title":"Oncologist"}],"container-title":["Clinical Journal of Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12328-023-01772-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12328-023-01772-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12328-023-01772-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T13:12:44Z","timestamp":1684588364000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12328-023-01772-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,17]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["1772"],"URL":"https:\/\/doi.org\/10.1007\/s12328-023-01772-3","relation":{},"ISSN":["1865-7257","1865-7265"],"issn-type":[{"type":"print","value":"1865-7257"},{"type":"electronic","value":"1865-7265"}],"subject":[],"published":{"date-parts":[[2023,2,17]]},"assertion":[{"value":"12 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures were performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human rights"}},{"value":"Informed consent was obtained from all patients included in this study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}