{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:27:54Z","timestamp":1793381274019,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","gynecologiconcology-online.net","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gynecologic Oncology"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.ygyno.2018.09.030","type":"journal-article","created":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T13:35:28Z","timestamp":1539351328000},"page":"481-488","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"title":["Germline pathogenic variants identified in women with ovarian tumors"],"prefix":"10.1016","volume":"151","author":[{"given":"Natalie J.","family":"Carter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan L.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Susswein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin K.","family":"Zorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Hiraki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"Arvai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca I.","family":"Torene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna K.","family":"McGill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Yackowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia D.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixiong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel T.","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen S.","family":"Hruska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ygyno.2018.09.030_bb0005","author":"Cancer Statistics Review"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0010","doi-asserted-by":"crossref","first-page":"2654","DOI":"10.1200\/JCO.2011.39.8545","article-title":"BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group","volume":"30","author":"Alsop","year":"2012","journal-title":"J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0015","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ygyno.2011.12.415","article-title":"Hereditary ovarian cancer: beyond the usual suspects","volume":"124","author":"Pennington","year":"2012","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0020","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ygyno.2005.10.029","article-title":"The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer","volume":"101","author":"Malander","year":"2006","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0025","series-title":"WHO Classification of Tumours of Female Reproductive Organs","author":"Kurman","year":"2014"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0030","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1097\/PAP.0b013e3182a92cf8","article-title":"Identifying Lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype","volume":"20","author":"Chui","year":"2013","journal-title":"Adv. Anat. Pathol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0035","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ygyno.2011.02.010","article-title":"Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors","volume":"121","author":"Ketabi","year":"2011","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0040","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1158\/0008-5472.CAN-10-3958","article-title":"Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer","volume":"71","author":"Casadei","year":"2011","journal-title":"Cancer Res."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0045","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/ng.893","article-title":"Germline mutations in RAD51D confer susceptibility to ovarian cancer","volume":"43","author":"Loveday","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0050","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1038\/ng.2224","article-title":"Germline RAD51C mutations confer susceptibility to ovarian cancer","volume":"44","author":"Loveday","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0055","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":"10.1016\/j.ygyno.2018.09.030_bb0060","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1038\/ng.955","article-title":"Mutations in BRIP1 confer high risk of ovarian cancer","volume":"43","author":"Rafnar","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0065","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/djv214","article-title":"Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer","volume":"107","author":"Ramus","year":"2015","journal-title":"J. Natl. Cancer Inst."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0070","doi-asserted-by":"crossref","first-page":"18032","DOI":"10.1073\/pnas.1115052108","article-title":"Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing","volume":"108","author":"Walsh","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0075","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ygyno.2017.08.030","article-title":"Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls","volume":"147","author":"Lilyquist","year":"2017","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0080","author":"Genetic Testing for Ovarian Cancer"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0085","author":"National Comprehensive Cancer Network"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.ygyno.2017.06.002","article-title":"Multi-disciplinary summit on genetics services for women with gynecologic cancers: a Society of Gynecologic Oncology White Paper","author":"Randall","year":"2017","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0095","author":"Next Generation Cancer Gene Panels Versus Gene by Gene Testing"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0100","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0105","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows\u2013Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0110","doi-asserted-by":"crossref","first-page":"11.10.1-33","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0115","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinforma. Oxf. Engl."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0120","first-page":"294","article-title":"ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007","volume":"10","author":"Richards","year":"2008","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0125","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0130","unstructured":"R Proj Stat Comput n.d. https:\/\/www.r-project.org\/ (accessed January 11, 2017)."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0135","first-page":"1","article-title":"Inherited mutations in women with ovarian carcinoma","author":"Norquist","year":"2015","journal-title":"JAMA Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0140","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1002\/cncr.21536","article-title":"BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases","volume":"104","author":"Pal","year":"2005","journal-title":"Cancer"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0145","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.ygyno.2011.01.020","article-title":"Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer","volume":"121","author":"Zhang","year":"2011","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0150","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":"10.1016\/j.ygyno.2018.09.030_bb0155","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1086\/302746","article-title":"ATM-heterozygous germline mutations contribute to breast cancer-susceptibility","volume":"66","author":"Broeks","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0160","doi-asserted-by":"crossref","first-page":"2901","DOI":"10.1200\/JCO.2015.61.2408","article-title":"Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population","volume":"33","author":"Song","year":"2015","journal-title":"J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0165","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s10689-016-9919-z","article-title":"Frequency of germline PALB2 mutations among women with epithelial ovarian cancer","volume":"16","author":"Kotsopoulos","year":"2017","journal-title":"Familial Cancer"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0170","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ygyno.2015.12.017","article-title":"Genetic characterization of early onset ovarian carcinoma","volume":"140","author":"Bernards","year":"2016","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0175","series-title":"World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of the Breast and Female Genital Organs","article-title":"Prat. Tumors of the ovary and peritoneum","author":"Lee","year":"2003"},{"key":"10.1016\/j.ygyno.2018.09.030_bb0180","doi-asserted-by":"crossref","first-page":"4703","DOI":"10.1093\/hmg\/ddu172","article-title":"The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population","volume":"23","author":"Song","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0185","doi-asserted-by":"crossref","DOI":"10.1016\/j.ygyno.2017.01.005","article-title":"Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer","author":"Ryan","year":"2017","journal-title":"Gynecol. Oncol."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0190","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1086\/302671","article-title":"The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study","volume":"65","author":"Stratton","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ygyno.2018.09.030_bb0195","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1007\/s10897-017-0099-2","article-title":"Cancer genetic counseling and testing in an era of rapid change","volume":"26","author":"Hooker","year":"2017","journal-title":"J. Genet. Couns."}],"container-title":["Gynecologic Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090825818312496?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090825818312496?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T23:12:06Z","timestamp":1693955526000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0090825818312496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S0090825818312496"],"URL":"https:\/\/doi.org\/10.1016\/j.ygyno.2018.09.030","relation":{},"ISSN":["0090-8258"],"issn-type":[{"value":"0090-8258","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline pathogenic variants identified in women with ovarian tumors","name":"articletitle","label":"Article Title"},{"value":"Gynecologic Oncology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygyno.2018.09.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}