{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:36:48Z","timestamp":1791250608710,"version":"4.1.0"},"reference-count":135,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":637,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1002\/humu.22478","type":"journal-article","created":{"date-parts":[[2013,11,6]],"date-time":"2013-11-06T15:43:26Z","timestamp":1383752606000},"page":"151-164","source":"Crossref","is-referenced-by-count":118,"title":["Functional Assays for Analysis of Variants of Uncertain Significance in<i>BRCA2<\/i>"],"prefix":"10.1155","volume":"35","author":[{"given":"Lucia","family":"Guidugli","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aura","family":"Carreira","sequence":"additional","affiliation":[{"name":"Institut Curie; Research Center, Centre Universitaire; Orsay France"},{"name":"CNRS UMR3348; Genotoxic Stress and Cancer; Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine M.","family":"Caputo","sequence":"additional","affiliation":[{"name":"Institut Curie; Service de G\u00e9n\u00e9tique; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asa","family":"Ehlen","sequence":"additional","affiliation":[{"name":"Institut Curie; Research Center, Centre Universitaire; Orsay France"},{"name":"CNRS UMR3348; Genotoxic Stress and Cancer; Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Galli","sequence":"additional","affiliation":[{"name":"Laboratorio di Terapia Genica e Molecolare Istituto di Fisiologia Clinica; CNR Area della Ricerca CNR; Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro N.A.","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Cancer Epidemiology Program; H. Lee Moffitt Cancer Center; Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[{"name":"Department of Population Sciences; Beckman Research Institute of City of Hope; Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas V.O.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine; Rigshospitalet, University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike P.G.","family":"Vreeswijk","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Leiden University Medical Center (LUMC); Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the ENIGMA consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,3]]},"reference":[{"key":"10.1002\/humu.22478-BIB0001|humu22478-cit-0001","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1038\/sj.bjc.6604305","article-title":"The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions","volume":"98","author":"Antoniou","year":"2008","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.22478-BIB0002|humu22478-cit-0002","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0140-6736(10)60893-8","article-title":"Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial","volume":"376","author":"Audeh","year":"2010","journal-title":"Lancet"},{"key":"10.1002\/humu.22478-BIB0003|humu22478-cit-0003","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1016\/j.cub.2009.05.057","article-title":"The carboxyl terminus of Brca2 links the disassembly of Rad51 complexes to mitotic entry","volume":"19","author":"Ayoub","year":"2009","journal-title":"Curr Biol"},{"key":"10.1002\/humu.22478-BIB0004|humu22478-cit-0004","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1080\/09553000400017937","article-title":"Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers","volume":"80","author":"Baeyens","year":"2004","journal-title":"Int J Radiat Biol"},{"key":"10.1002\/humu.22478-BIB0005|humu22478-cit-0005","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1007\/s10549-011-1607-y","article-title":"Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells","volume":"129","author":"Balia","year":"2011","journal-title":"Breast Cancer Res Treat"},{"key":"10.1002\/humu.22478-BIB0006|humu22478-cit-0006","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s10549-012-2119-0","article-title":"A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity","volume":"135","author":"Becker","year":"2012","journal-title":"Breast Cancer Res Treat"},{"key":"10.1002\/humu.22478-BIB0007|humu22478-cit-0007","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/jmg.38.6.361","article-title":"BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age","volume":"38","author":"Bergthorsson","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22478-BIB0008|humu22478-cit-0008","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.1182\/blood-2010-12-324541","article-title":"A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay","volume":"118","author":"Biswas","year":"2011","journal-title":"Blood"},{"key":"10.1002\/humu.22478-BIB0009|humu22478-cit-0009","doi-asserted-by":"crossref","first-page":"3993","DOI":"10.1093\/hmg\/dds222","article-title":"Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay","volume":"21","author":"Biswas","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22478-BIB0010|humu22478-cit-0010","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/ng0596-22","article-title":"Internal repeats in the BRCA2 protein sequence","volume":"13","author":"Bork","year":"1996","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22478-BIB0011|humu22478-cit-0011","doi-asserted-by":"crossref","first-page":"8632","DOI":"10.1073\/pnas.1305362110","article-title":"Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer","volume":"110","author":"Bowman-Colin","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22478-BIB0012|humu22478-cit-0012","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/emboj.2011.490","article-title":"APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer","volume":"31","author":"Brough","year":"2012","journal-title":"Embo J"},{"key":"10.1002\/humu.22478-BIB0013|humu22478-cit-0013","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF03195697","article-title":"Loss of heterozygosity at BRCA1\/2 loci in hereditary and sporadic ovarian cancers","volume":"50","author":"Brozek","year":"2009","journal-title":"J Appl Genet"},{"key":"10.1002\/humu.22478-BIB0014|humu22478-cit-0014","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":"10.1002\/humu.22478-BIB0015|humu22478-cit-0015","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/ijc.10109","article-title":"Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2","volume":"97","author":"Buchholz","year":"2002","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.22478-BIB0016|humu22478-cit-0016","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/humu.9176","article-title":"RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast\/ovarian cancer families from Spain","volume":"22","author":"Campos","year":"2003","journal-title":"Hum Mutat"},{"issue":"Database issue","key":"10.1002\/humu.22478-BIB0017|humu22478-cit-0017","doi-asserted-by":"crossref","first-page":"D992","DOI":"10.1093\/nar\/gkr1160","article-title":"Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1\/BRCA2 databases","volume":"40","author":"Caputo","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22478-BIB0018|humu22478-cit-0018","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/j.cell.2009.02.019","article-title":"The BRC repeats of BRCA2 modulate the DNA-binding selectivity of RAD51","volume":"136","author":"Carreira","year":"2009","journal-title":"Cell"},{"key":"10.1002\/humu.22478-BIB0019|humu22478-cit-0019","doi-asserted-by":"crossref","first-page":"10448","DOI":"10.1073\/pnas.1106971108","article-title":"Two classes of BRC repeats in BRCA2 promote RAD51 nucleoprotein filament function by distinct mechanisms","volume":"108","author":"Carreira","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22478-BIB0020|humu22478-cit-0020","doi-asserted-by":"crossref","first-page":"5287","DOI":"10.1073\/pnas.95.9.5287","article-title":"The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment","volume":"95","author":"Chen","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22478-BIB0021|humu22478-cit-0021","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1158\/0008-5472.CAN-05-3546","article-title":"Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance","volume":"66","author":"Chenevix-Trench","year":"2006","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0022|humu22478-cit-0022","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1038\/sj.bjc.6601656","article-title":"BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast\/ovarian cancer families","volume":"90","author":"Claes","year":"2004","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.22478-BIB0023|humu22478-cit-0023","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/sj.bjc.6603298","article-title":"Mapping loss of heterozygosity in normal human breast cells from BRCA1\/2 carriers","volume":"95","author":"Clarke","year":"2006","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.22478-BIB0024|humu22478-cit-0024","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/ng1297-423","article-title":"Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation","volume":"17","author":"Connor","year":"1997","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22478-BIB0025|humu22478-cit-0025","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1126\/science.1102574","article-title":"Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2","volume":"306","author":"Daniels","year":"2004","journal-title":"Science"},{"key":"10.1002\/humu.22478-BIB0026|humu22478-cit-0026","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1038\/nsmb0707-680a","article-title":"Interaction with the BRCA2 C terminus protects RAD51-DNA filaments from disassembly by BRC repeats","volume":"14","author":"Davies","year":"2007","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0027|humu22478-cit-0027","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1089\/10906570260199375","article-title":"Characterization of common BRCA1 and BRCA2 variants","volume":"6","author":"Deffenbaugh","year":"2002","journal-title":"Genet Test"},{"key":"10.1002\/humu.22478-BIB0028|humu22478-cit-0028","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/humu.10260","article-title":"Analysis of BRCA1 and BRCA2 genes in Spanish breast\/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects","volume":"22","author":"D\u00edez","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0029|humu22478-cit-0029","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.stem.2012.11.011","article-title":"A TALEN genome-editing system for generating human stem cell-based disease models","volume":"12","author":"Ding","year":"2013","journal-title":"Cell Stem Cell"},{"key":"10.1002\/humu.22478-BIB0030|humu22478-cit-0030","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/gcc.10148","article-title":"Deletion of Brca2 exon 27 causes hypersensitivity to DNA crosslinks, chromosomal instability, and reduced life span in mice","volume":"36","author":"Donoho","year":"2003","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.22478-BIB0031|humu22478-cit-0031","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/j.ccr.2011.11.014","article-title":"BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance","volume":"20","author":"Drost","year":"2011","journal-title":"Cancer Cell"},{"key":"10.1002\/humu.22478-BIB0032|humu22478-cit-0032","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1086\/521032","article-title":"A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes","volume":"81","author":"Easton","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22478-BIB0033|humu22478-cit-0033","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/345310","article-title":"Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene","volume":"72","author":"Edwards","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22478-BIB0034|humu22478-cit-0034","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.ijrobp.2009.10.020","article-title":"Increased chromosomal radiosensitivity in women carrying BRCA1\/BRCA2 mutations assessed with the G2 assay","volume":"76","author":"Ernestos","year":"2010","journal-title":"Int J Radiat Oncol Biol Phys"},{"key":"10.1002\/humu.22478-BIB0035|humu22478-cit-0035","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/nsmb1245","article-title":"Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2","volume":"14","author":"Esashi","year":"2007","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0036|humu22478-cit-0036","doi-asserted-by":"crossref","first-page":"5885","DOI":"10.1038\/sj.onc.1209871","article-title":"Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects","volume":"25","author":"Evers","year":"2006","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0037|humu22478-cit-0037","doi-asserted-by":"crossref","first-page":"3916","DOI":"10.1158\/1078-0432.CCR-07-4953","article-title":"Selective inhibition of BRCA2-deficient mammary tumor cell growth by AZD2281 and cisplatin","volume":"14","author":"Evers","year":"2008","journal-title":"Clin Cancer Res"},{"key":"10.1002\/humu.22478-BIB0038|humu22478-cit-0038","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/nature03445","article-title":"Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy","volume":"434","author":"Farmer","year":"2005","journal-title":"Nature"},{"key":"10.1002\/humu.22478-BIB0039|humu22478-cit-0039","doi-asserted-by":"crossref","first-page":"3523","DOI":"10.1158\/0008-5472.CAN-07-1587","article-title":"Functional assays for classification of BRCA2 variants of uncertain significance","volume":"68","author":"Farrugia","year":"2008","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0040|humu22478-cit-0040","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1056\/NEJMoa0900212","article-title":"Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers","volume":"361","author":"Fong","year":"2009","journal-title":"The New England journal of medicine"},{"key":"10.1002\/humu.22478-BIB0041|humu22478-cit-0041","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1093\/hmg\/ddh270","article-title":"Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort","volume":"13","author":"Freedman","year":"2004","journal-title":"Hum Mol Genet"},{"issue":"Pt 26","key":"10.1002\/humu.22478-BIB0042|humu22478-cit-0042","doi-asserted-by":"crossref","first-page":"6447","DOI":"10.1242\/jcs.01575","article-title":"Sem1, the yeast ortholog of a human BRCA2-binding protein, is a component of the proteasome regulatory particle that enhances proteasome stability","volume":"117","author":"Funakoshi","year":"2004","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.22478-BIB0043|humu22478-cit-0043","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S1470-2045(11)70214-5","article-title":"Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study","volume":"12","author":"Gelmon","year":"2011","journal-title":"Lancet Oncol"},{"key":"10.1002\/humu.22478-BIB0044|humu22478-cit-0044","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1086\/424388","article-title":"Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2","volume":"75","author":"Goldgar","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22478-BIB0045|humu22478-cit-0045","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1002\/humu.20897","article-title":"Genetic evidence and integration of various data sources for classifying uncertain variants into a single model","volume":"29","author":"Goldgar","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0046|humu22478-cit-0046","doi-asserted-by":"crossref","first-page":"R8","DOI":"10.1186\/bcr2223","article-title":"A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history","volume":"11","author":"G\u00f3mez Garc\u00eda","year":"2009","journal-title":"Breast Cancer Res"},{"key":"10.1002\/humu.22478-BIB0047|humu22478-cit-0047","doi-asserted-by":"crossref","first-page":"5864","DOI":"10.1038\/sj.onc.1209874","article-title":"The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability","volume":"25","author":"Gudmundsdottir","year":"2006","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0048|humu22478-cit-0048","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1158\/0008-5472.CAN-12-2081","article-title":"A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity","volume":"73","author":"Guidugli","year":"2013","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0049|humu22478-cit-0049","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/humu.9110","article-title":"BRCA2 germline mutations in Cypriot patients with familial breast\/ovarian cancer","volume":"21","author":"Hadjisavvas","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0050|humu22478-cit-0050","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s10549-007-9624-6","article-title":"Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer","volume":"109","author":"Hammet","year":"2008","journal-title":"Breast Cancer Res Treat"},{"key":"10.1002\/humu.22478-BIB0051|humu22478-cit-0051","doi-asserted-by":"crossref","first-page":"2969","DOI":"10.1038\/sj.onc.1210968","article-title":"A CRM1-mediated nuclear export signal governs cytoplasmic localization of BRCA2 and is essential for centrosomal localization of BRCA2","volume":"27","author":"Han","year":"2008","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0052|humu22478-cit-0052","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/81691","article-title":"A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability","volume":"26","author":"Healey","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22478-BIB0053|humu22478-cit-0053","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nsmb.2096","article-title":"Unraveling the mechanism of BRCA2 in homologous recombination","volume":"18","author":"Holloman","year":"2011","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0054|humu22478-cit-0054","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/humu.22101","article-title":"Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico\/in vitro studies on BRCA1 and BRCA2 variants","volume":"33","author":"Houdayer","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0055|humu22478-cit-0055","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1126\/science.1073834","article-title":"Biallelic inactivation of BRCA2 in Fanconi anemia","volume":"297","author":"Howlett","year":"2002","journal-title":"Science"},{"key":"10.1002\/humu.22478-BIB0056|humu22478-cit-0056","doi-asserted-by":"crossref","first-page":"5023","DOI":"10.1158\/0008-5472.CAN-07-6189","article-title":"A syngeneic variance library for functional annotation of human variation: application to BRCA2","volume":"68","author":"Hucl","year":"2008","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0057|humu22478-cit-0057","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0092-8674(03)00930-9","article-title":"EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer","volume":"115","author":"Hughes-Davies","year":"2003","journal-title":"Cell"},{"key":"10.1002\/humu.22478-BIB0058|humu22478-cit-0058","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1158\/2159-8290.CD-13-0011","article-title":"Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer","volume":"3","author":"Huo","year":"2013","journal-title":"Cancer Discov"},{"key":"10.1002\/humu.22478-BIB0059|humu22478-cit-0059","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/hmg\/ddg266","article-title":"Direct interaction of the Fanconi anaemia protein FANCG with BRCA2\/FANCD1","volume":"12","author":"Hussain","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22478-BIB0060|humu22478-cit-0060","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1093\/hmg\/ddh135","article-title":"Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways","volume":"13","author":"Hussain","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22478-BIB0061|humu22478-cit-0061","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1158\/1055-9965.EPI-10-1214","article-title":"A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1","volume":"20","author":"Iversen","year":"2011","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1002\/humu.22478-BIB0062|humu22478-cit-0062","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1038\/nature09399","article-title":"Purified human BRCA2 stimulates RAD51-mediated recombination","volume":"467","author":"Jensen","year":"2010","journal-title":"Nature"},{"key":"10.1002\/humu.22478-BIB0063|humu22478-cit-0063","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1038\/nsmb.2666","article-title":"A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization","volume":"20","author":"Jeyasekharan","year":"2013","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0064|humu22478-cit-0064","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1093\/hmg\/ddm050","article-title":"Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility","volume":"16","author":"Johnson","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22478-BIB0065|humu22478-cit-0065","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/ng747","article-title":"Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer","volume":"29","author":"Jonkers","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22478-BIB0066|humu22478-cit-0066","first-page":"191","article-title":"BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts","volume":"31","author":"Jonsdottir","year":"2009","journal-title":"Cell Oncol"},{"issue":"Pt 1","key":"10.1002\/humu.22478-BIB0067|humu22478-cit-0067","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1042\/BJ20051238","article-title":"Fission yeast Dss1 associates with the proteasome and is required for efficient ubiquitin-dependent proteolysis","volume":"393","author":"Josse","year":"2006","journal-title":"Biochem J"},{"key":"10.1002\/humu.22478-BIB0068|humu22478-cit-0068","doi-asserted-by":"crossref","first-page":"3896","DOI":"10.1158\/1078-0432.CCR-05-2805","article-title":"Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage","volume":"12","author":"Kote-Jarai","year":"2006","journal-title":"Clin Cancer Res"},{"key":"10.1002\/humu.22478-BIB0069|humu22478-cit-0069","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1128\/MCB.22.2.669-679.2002","article-title":"Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions","volume":"22","author":"Kraakman-van der Zwet","year":"2002","journal-title":"Molecular and cellular biology"},{"key":"10.1002\/humu.22478-BIB0070|humu22478-cit-0070","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/nm.1719","article-title":"Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2","volume":"14","author":"Kuznetsov","year":"2008","journal-title":"Nature medicine"},{"key":"10.1002\/humu.22478-BIB0071|humu22478-cit-0071","doi-asserted-by":"crossref","first-page":"5188","DOI":"10.1038\/sj.onc.1205659","article-title":"Deficiency in BRCA2 leads to increase in non-conservative homologous recombination","volume":"21","author":"Larminat","year":"2002","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0072|humu22478-cit-0072","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/sj.onc.1209153","article-title":"DSS1 is required for the stability of BRCA2","volume":"25","author":"Li","year":"2006","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0073|humu22478-cit-0073","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/humu.21627","article-title":"A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)","volume":"33","author":"Lindor","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0074|humu22478-cit-0074","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1038\/nsmb.1904","article-title":"Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA","volume":"17","author":"Liu","year":"2010","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0075|humu22478-cit-0075","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/S1568-7864(03)00097-1","article-title":"Sequence fingerprints in BRCA2 and RAD51: implications for DNA repair and cancer","volume":"2","author":"Lo","year":"2003","journal-title":"DNA Repair (Amst)"},{"key":"10.1002\/humu.22478-BIB0076|humu22478-cit-0076","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nature10760","article-title":"The DNA damage response and cancer therapy","volume":"481","author":"Lord","year":"2012","journal-title":"Nature"},{"key":"10.1002\/humu.22478-BIB0077|humu22478-cit-0077","doi-asserted-by":"crossref","first-page":"R82","DOI":"10.1186\/bcr1826","article-title":"Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants","volume":"9","author":"Lovelock","year":"2007","journal-title":"Breast Cancer Res"},{"key":"10.1002\/humu.22478-BIB0078|humu22478-cit-0078","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1126\/science.1232033","article-title":"RNA-guided human genome engineering via Cas9","volume":"339","author":"Mali","year":"2013","journal-title":"Science"},{"key":"10.1002\/humu.22478-BIB0079|humu22478-cit-0079","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0092-8674(01)00209-4","article-title":"A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression","volume":"104","author":"Marmorstein","year":"2001","journal-title":"Cell"},{"key":"10.1002\/humu.22478-BIB0080|humu22478-cit-0080","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1002\/humu.22150","article-title":"A guide for functional analysis of BRCA1 variants of uncertain significance","volume":"33","author":"Millot","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0081|humu22478-cit-0081","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/386772a0","article-title":"Transcriptional activation functions in BRCA2","volume":"386","author":"Milner","year":"1997","journal-title":"Nature"},{"key":"10.1002\/humu.22478-BIB0082|humu22478-cit-0082","first-page":"211","article-title":"A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example BMC","volume":"9","author":"Mohammadi","year":"2009","journal-title":"Cancer"},{"key":"10.1002\/humu.22478-BIB0083|humu22478-cit-0083","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.devcel.2012.05.008","article-title":"BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis","volume":"23","author":"Mondal","year":"2012","journal-title":"Dev Cell"},{"key":"10.1002\/humu.22478-BIB0084|humu22478-cit-0084","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1158\/0008-5472.CAN-05-3034","article-title":"Cancer risk assessment at the atomic level","volume":"66","author":"Monteiro","year":"2006","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0085|humu22478-cit-0085","first-page":"3441","article-title":"Cells deleted for Brca2 COOH terminus exhibit hypersensitivity to gamma-radiation and premature senescence","volume":"58","author":"Morimatsu","year":"1998","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0086|humu22478-cit-0086","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S1097-2765(01)00174-5","article-title":"BRCA2 is required for homology-directed repair of chromosomal breaks","volume":"7","author":"Moynahan","year":"2001","journal-title":"Mol Cell"},{"key":"10.1002\/humu.22478-BIB0087|humu22478-cit-0087","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.bbrc.2007.01.100","article-title":"Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division","volume":"355","author":"Nakanishi","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.22478-BIB0088|humu22478-cit-0088","first-page":"1372","article-title":"A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast\/ovarian cancer family","volume":"58","author":"Nordling","year":"1998","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0089|humu22478-cit-0089","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1038\/embor.2009.126","article-title":"Structural basis for recruitment of BRCA2 by PALB2","volume":"10","author":"Oliver","year":"2009","journal-title":"EMBO Rep"},{"key":"10.1002\/humu.22478-BIB0090|humu22478-cit-0090","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1097-2765(00)80035-0","article-title":"Involvement of Brca2 in DNA repair","volume":"1","author":"Patel","year":"1998","journal-title":"Mol Cell"},{"key":"10.1002\/humu.22478-BIB0091|humu22478-cit-0091","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1002\/humu.20880","article-title":"Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results","volume":"29","author":"Plon","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0092|humu22478-cit-0092","first-page":"68","article-title":"BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nature reviews","volume":"12","author":"Roy","year":"2012","journal-title":"Cancer"},{"key":"10.1002\/humu.22478-BIB0093|humu22478-cit-0093","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.canlet.2005.03.006","article-title":"BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain","volume":"233","author":"Salazar","year":"2006","journal-title":"Cancer Lett"},{"key":"10.1002\/humu.22478-BIB0094|humu22478-cit-0094","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S1470-2045(13)70240-7","article-title":"The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial","volume":"14","author":"Sandhu","year":"2013","journal-title":"Lancet Oncol"},{"key":"10.1002\/humu.22478-BIB0095|humu22478-cit-0095","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.cell.2011.03.041","article-title":"Double-strand break repair-independent role for BRCA2 in blocking stalled replication fork degradation by MRE11","volume":"145","author":"Schlacher","year":"2011","journal-title":"Cell"},{"key":"10.1002\/humu.22478-BIB0096|humu22478-cit-0096","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ccr.2012.05.015","article-title":"A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51-BRCA1\/2","volume":"22","author":"Schlacher","year":"2012","journal-title":"Cancer Cell"},{"key":"10.1002\/humu.22478-BIB0097|humu22478-cit-0097","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1007\/s00439-003-0908-6","article-title":"Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics","volume":"112","author":"Scott","year":"2003","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22478-BIB0098|humu22478-cit-0098","first-page":"4827","article-title":"Evaluation of a soluble tetrazolium\/formazan assay for cell growth and drug sensitivity in culture using human and other tumor cell lines","volume":"48","author":"Scudiero","year":"1988","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0099|humu22478-cit-0099","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1209909","article-title":"BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity","volume":"334","author":"Shakya","year":"2011","journal-title":"Science"},{"key":"10.1002\/humu.22478-BIB0100|humu22478-cit-0100","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1006\/geno.1996.4573","article-title":"Murine Brca2: sequence, map position, and expression pattern","volume":"40","author":"Sharan","year":"1997","journal-title":"Genomics"},{"key":"10.1002\/humu.22478-BIB0101|humu22478-cit-0101","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/386804a0","article-title":"Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2","volume":"386","author":"Sharan","year":"1997","journal-title":"Nature"},{"key":"10.1002\/humu.22478-BIB0102|humu22478-cit-0102","doi-asserted-by":"crossref","first-page":"28807","DOI":"10.1074\/jbc.M403165200","article-title":"Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae","volume":"279","author":"Sone","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22478-BIB0103|humu22478-cit-0103","doi-asserted-by":"crossref","first-page":"13920","DOI":"10.1073\/pnas.96.24.13920","article-title":"Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations","volume":"96","author":"Spain","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22478-BIB0104|humu22478-cit-0104","doi-asserted-by":"crossref","first-page":"5393","DOI":"10.1200\/JCO.2008.17.8228","article-title":"Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance","volume":"26","author":"Spearman","year":"2008","journal-title":"J Clin Oncol"},{"key":"10.1002\/humu.22478-BIB0105|humu22478-cit-0105","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1002\/(SICI)1097-0215(20000215)85:4<474::AID-IJC5>3.0.CO;2-4","article-title":"Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure","volume":"85","author":"Spitzer","year":"2000","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.22478-BIB0106|humu22478-cit-0106","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1093\/mutage\/ges069","article-title":"Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae","volume":"28","author":"Spugnesi","year":"2013","journal-title":"Mutagenesis"},{"key":"10.1002\/humu.22478-BIB0107|humu22478-cit-0107","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1200\/JCO.2007.13.2779","article-title":"Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis-a report from the kConFab Investigators","volume":"26","author":"Spurdle","year":"2008","journal-title":"J Clin Oncol"},{"key":"10.1002\/humu.22478-BIB0108|humu22478-cit-0108","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/humu.21628","article-title":"ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes","volume":"33","author":"Spurdle","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0109|humu22478-cit-0109","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":"10.1002\/humu.22478-BIB0110|humu22478-cit-0110","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y","article-title":"The breast cancer information core: database design, structure, and scope","volume":"16","author":"Szabo","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0111|humu22478-cit-0111","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1002\/humu.20896","article-title":"Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications","volume":"29","author":"Tavtigian","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0112|humu22478-cit-0112","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1089\/gte.2006.10.116","article-title":"A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13","volume":"10","author":"Thomassen","year":"2006","journal-title":"Genet Test"},{"key":"10.1002\/humu.22478-BIB0113|humu22478-cit-0113","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1007\/s10549-011-1674-0","article-title":"Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members","volume":"132","author":"Thomassen","year":"2012","journal-title":"Breast Cancer Res Treat"},{"key":"10.1002\/humu.22478-BIB0114|humu22478-cit-0114","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1038\/sj.emboj.7601739","article-title":"Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1","volume":"26","author":"Thorslund","year":"2007","journal-title":"Embo J"},{"key":"10.1002\/humu.22478-BIB0115|humu22478-cit-0115","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1038\/nsmb.1905","article-title":"The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA","volume":"17","author":"Thorslund","year":"2010","journal-title":"Nat Struct Mol Biol"},{"key":"10.1002\/humu.22478-BIB0116|humu22478-cit-0116","doi-asserted-by":"crossref","first-page":"7353","DOI":"10.1158\/0008-5472.CAN-10-1012","article-title":"PALB2\/FANCN: recombining cancer and Fanconi anemia","volume":"70","author":"Tischkowitz","year":"2010","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0117|humu22478-cit-0117","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1200\/JCO.1999.17.10.3017","article-title":"BRCA1\/BRCA2 germline mutations in locally recurrent breast cancer patients after lumpectomy and radiation therapy: implications for breast-conserving management in patients with BRCA1\/BRCA2 mutations","volume":"17","author":"Turner","year":"1999","journal-title":"J Clin Oncol"},{"key":"10.1002\/humu.22478-BIB0118|humu22478-cit-0118","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/S0960-9822(99)80479-5","article-title":"Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification","volume":"9","author":"Tutt","year":"1999","journal-title":"Curr Biol"},{"key":"10.1002\/humu.22478-BIB0119|humu22478-cit-0119","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0140-6736(10)60892-6","article-title":"Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial","volume":"376","author":"Tutt","year":"2010","journal-title":"Lancet"},{"key":"10.1002\/humu.22478-BIB0120|humu22478-cit-0120","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.21629","article-title":"Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs","volume":"33","author":"Vallee","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0121|humu22478-cit-0121","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/jmg.2004.028829","article-title":"Cancer risks in BRCA2 families: estimates for sites other than breast and ovary","volume":"42","author":"Asperen","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22478-BIB0122|humu22478-cit-0122","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1158\/0008-5472.822.65.3","article-title":"Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations","volume":"65","author":"Beers","year":"2005","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0123|humu22478-cit-0123","doi-asserted-by":"crossref","first-page":"e1000080","DOI":"10.1371\/journal.pgen.1000080","article-title":"BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression","volume":"4","author":"Waddell","year":"2008","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22478-BIB0124|humu22478-cit-0124","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/hmg\/8.3.413","article-title":"Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations","volume":"8","author":"Wagner","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22478-BIB0125|humu22478-cit-0125","doi-asserted-by":"crossref","first-page":"E1484","DOI":"10.1002\/humu.21267","article-title":"Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity","volume":"31","author":"Walker","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22478-BIB0126|humu22478-cit-0126","doi-asserted-by":"crossref","first-page":"7645","DOI":"10.1158\/1078-0432.CCR-08-1291","article-title":"Genome-wide loss of heterozygosity and uniparental disomy in BRCA1\/2-associated ovarian carcinomas","volume":"14","author":"Walsh","year":"2008","journal-title":"Clin Cancer Res"},{"key":"10.1002\/humu.22478-BIB0127|humu22478-cit-0127","doi-asserted-by":"crossref","first-page":"R775","DOI":"10.1186\/bcr1291","article-title":"Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer","volume":"7","author":"Wappenschmidt","year":"2005","journal-title":"Breast Cancer Res"},{"key":"10.1002\/humu.22478-BIB0128|humu22478-cit-0128","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/sj.onc.1206071","article-title":"Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2","volume":"22","author":"Wong","year":"2003","journal-title":"Oncogene"},{"key":"10.1002\/humu.22478-BIB0129|humu22478-cit-0129","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1158\/0008-5472.417.65.2","article-title":"Functional evaluation and cancer risk assessment of BRCA2 unclassified variants","volume":"65","author":"Wu","year":"2005","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0130|humu22478-cit-0130","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/j.molcel.2006.05.022","article-title":"Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2","volume":"22","author":"Xia","year":"2006","journal-title":"Mol Cell"},{"key":"10.1002\/humu.22478-BIB0131|humu22478-cit-0131","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1126\/science.297.5588.1837","article-title":"BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure","volume":"297","author":"Yang","year":"2002","journal-title":"Science"},{"key":"10.1002\/humu.22478-BIB0132|humu22478-cit-0132","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1006\/bbrc.2000.2392","article-title":"Nuclear localization signals of the BRCA2 protein","volume":"270","author":"Yano","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.22478-BIB0133|humu22478-cit-0133","first-page":"3547","article-title":"BRCA2 is required for ionizing radiation-induced assembly of Rad51 complex in vivo","volume":"59","author":"Yuan","year":"1999","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22478-BIB0134|humu22478-cit-0134","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1158\/1541-7786.MCR-09-0123","article-title":"PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2","volume":"7","author":"Zhang","year":"2009a","journal-title":"Mol Cancer Res"},{"key":"10.1002\/humu.22478-BIB0135|humu22478-cit-0135","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.cub.2009.02.018","article-title":"PALB2 links BRCA1 and BRCA2 in the DNA-damage response","volume":"19","author":"Zhang","year":"2009b","journal-title":"Curr Biol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22478","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22478\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T06:47:39Z","timestamp":1688626059000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,3]]},"references-count":135,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22478","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12,3]]}}}