{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T04:11:02Z","timestamp":1771042262491,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1007\/s10689-015-9790-3","type":"journal-article","created":{"date-parts":[[2015,2,24]],"date-time":"2015-02-24T14:11:48Z","timestamp":1424787108000},"page":"481-485","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance"],"prefix":"10.1007","volume":"14","author":[{"given":"Elizabeth","family":"Varga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth C.","family":"Chao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas D.","family":"Yeager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"issue":"5","key":"9790_CR1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/nrd3979","volume":"12","author":"R Simon","year":"2013","unstructured":"Simon R, Roychowdhury S (2013) Implementing personalized cancer genomics in clinical trials. Nat Rev Drug Discov 12(5):358\u2013369","journal-title":"Nat Rev Drug Discov"},{"issue":"11","key":"9790_CR2","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/nbt.2696","volume":"31","author":"GM Frampton","year":"2013","unstructured":"Frampton GM, Fichtenholtz A, Otto GA et al (2013) Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 31(11):1023\u20131031","journal-title":"Nat Biotechnol"},{"issue":"11","key":"9790_CR3","first-page":"1014","volume":"25","author":"J Rios","year":"2011","unstructured":"Rios J, Puhalla S (2011) PARP inhibitors in breast cancer: bRCA and beyond. Oncology 25(11):1014\u20131025","journal-title":"Oncology"},{"key":"9790_CR4","unstructured":"National Comprehensive Cancer Network. http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf . Accessed 10 Sep 2014"},{"key":"9790_CR5","unstructured":"National Comprehensive Cancer Network. http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/colorectal_screening.pdf . Accessed 10 Sep 2014"},{"issue":"6","key":"9790_CR6","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/humu.20735","volume":"29","author":"EC Chao","year":"2008","unstructured":"Chao EC, Velasquez JL, Witherspoon MS et al (2008) Accurate classification of MLH1\/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 29(6):852\u2013860","journal-title":"Hum Mutat"},{"key":"9790_CR7","doi-asserted-by":"crossref","unstructured":"Catenacci DV, Amico AL, Nielsen SM, Geynisman DM, Rambo B, Carey GB, Gulden C, Fackenthal J, Marsh RD, Kindler HL, Olopade OI (2015) Tumor genome analysis includes germline genome: are we ready for surprises? Int J Cancer 136(7):1559\u20131567","DOI":"10.1002\/ijc.29128"},{"issue":"15","key":"9790_CR8","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1200\/JCO.2012.45.2789","volume":"31","author":"MP Lolkema","year":"2013","unstructured":"Lolkema MP, Gadellaa-van Hooijdonk CG, Bredenoord AL et al (2013) Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. J Clin Oncol 31(15):1842\u20131848","journal-title":"J Clin Oncol"},{"issue":"12","key":"9790_CR9","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1186\/1471-2407-12-531","volume":"20","author":"K Kast","year":"2012","unstructured":"Kast K, Neuhann TM, G\u00f6rgens H et al (2012) Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. BMC Cancer 20(12):531","journal-title":"BMC Cancer"},{"issue":"6","key":"9790_CR10","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/(SICI)1097-0215(20000315)85:6<796::AID-IJC10>3.0.CO;2-L","volume":"85","author":"A Borg","year":"2000","unstructured":"Borg A, Isola J, Chen J et al (2000) Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma. Int J Cancer 85(6):796\u2013800","journal-title":"Int J Cancer"},{"issue":"2","key":"9790_CR11","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/sj.bjc.6601424","volume":"90","author":"I Thiffault","year":"2004","unstructured":"Thiffault I, Hamel N, Pal T et al (2004) Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer 90(2):483\u2013491","journal-title":"Br J Cancer"},{"key":"9790_CR12","doi-asserted-by":"crossref","unstructured":"Pedroni M, Di Gregorio C, Cortesi L, et al (2013) Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors. Tech Coloproctol 18(3):285\u2013289","DOI":"10.1007\/s10151-013-1030-y"},{"key":"9790_CR13","unstructured":"Petrucelli N, Daly M, Feldman G. GeneReviews: BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1247\/ . Accessed 10 Sep 2014"},{"issue":"23","key":"9790_CR14","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1093\/jnci\/djm203","volume":"99","author":"YC Tai","year":"2007","unstructured":"Tai YC, Domchek S, Parmigiani G, Chen S (2007) Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 99(23):1811\u20131814","journal-title":"J Natl Cancer Inst"},{"issue":"9","key":"9790_CR15","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1038\/bjc.2011.120","volume":"104","author":"K Metcalfe","year":"2011","unstructured":"Metcalfe K, Gershman S, Lynch HT et al (2011) Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 104(9):1384\u20131392","journal-title":"Br J Cancer"},{"issue":"5","key":"9790_CR16","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/375033","volume":"72","author":"A Antoniou","year":"2003","unstructured":"Antoniou A, Pharoah PD, Narod S (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117\u20131130","journal-title":"Am J Hum Genet"},{"issue":"11","key":"9790_CR17","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1200\/JCO.2006.09.1066","volume":"25","author":"S Chen","year":"2007","unstructured":"Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329\u20131333","journal-title":"J Clin Oncol"},{"issue":"21","key":"9790_CR18","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1200\/JCO.2013.54.8917","volume":"32","author":"DW Parsons","year":"2014","unstructured":"Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM (2014) Clinical tumor sequencing: an incidental casualty of the american college of medical genetics and genomics recommendations for reporting of incidental findings. J Clin Oncol 32(21):2203\u20132205","journal-title":"J Clin Oncol"},{"issue":"1","key":"9790_CR19","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT Dunnen den","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7\u201312","journal-title":"Hum Mutat"},{"issue":"9","key":"9790_CR20","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/gim.2013.92","volume":"15","author":"HL Rehm","year":"2013","unstructured":"Rehm HL, Bale SJ, Bayrak-Toydemir P et al (2013) Working group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 15(9):733\u2013747","journal-title":"Genet Med"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9790-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-015-9790-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9790-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T22:53:21Z","timestamp":1553640801000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-015-9790-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,25]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["9790"],"URL":"https:\/\/doi.org\/10.1007\/s10689-015-9790-3","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,25]]}}}