{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:14:30Z","timestamp":1789942470743,"version":"4.0.1"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,5,1]]},"DOI":"10.1093\/hmg\/ddm050","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T03:00:52Z","timestamp":1173236452000},"page":"1051-1057","source":"Crossref","is-referenced-by-count":104,"title":["Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility"],"prefix":"10.1093","volume":"16","author":[{"given":"Nichola","family":"Johnson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Fletcher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Palles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Rudd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Sellick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"dos Santos Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"McCormack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorna","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Fraser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare","family":"Gilham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean V.","family":"Tavtigian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Ashworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Houlston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Peto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,3,6]]},"reference":[{"key":"key\n\t\t\t\t20171012173148_DDM050C1","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/82533","article-title":"High constant incidence in twins and other relatives of women with breast cancer","volume":"26","author":"Peto","year":"2000","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C2","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1038\/nrc1476","article-title":"Association studies for finding cancer-susceptibility genetic variants","volume":"4","author":"Pharoah","year":"2004","journal-title":"Nat. Rev. Cancer"},{"key":"key\n\t\t\t\t20171012173148_DDM050C3","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/35077207","article-title":"Cancer genetics","volume":"411","author":"Ponder","year":"2001","journal-title":"Nature"},{"key":"key\n\t\t\t\t20171012173148_DDM050C4","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1093\/jnci\/91.11.943","article-title":"Prevalence of BRCA1 and BRCA2 gene mutations in patients with early onset breast cancer","volume":"91","author":"Peto","year":"1999","journal-title":"J. Natl. Cancer Inst."},{"key":"key\n\t\t\t\t20171012173148_DDM050C5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/ng853","article-title":"Polygenic susceptibility to breast cancer and implications for prevention","volume":"31","author":"Pharoah","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C6","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng749","article-title":"Replication validity of genetic association studies","volume":"29","author":"Ioannidis","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C7","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/ng1071","article-title":"Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease","volume":"33","author":"Lohmueller","year":"2003","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C8","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1093\/jnci\/djj374","article-title":"Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium","volume":"98","author":"Breast Cancer Association Consortium","year":"2006","journal-title":"J. Natl. Cancer Inst."},{"key":"key\n\t\t\t\t20171012173148_DDM050C9","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/ng1981","article-title":"A common coding variant in CASP8 is associated with breast cancer risk","volume":"39","author":"Cox","year":"2007","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C10","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1086\/421251","article-title":"CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10860 breast cancer cases and 9065 controls from 10 studies","volume":"74","author":"CHEK2 Breast Cancer Case-Control Consortium","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C11","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/ng1837","article-title":"ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles","volume":"38","author":"Renwick","year":"2006","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C12","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng1902","article-title":"Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles","volume":"38","author":"Seal","year":"2006","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C13","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng1959","article-title":"PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene","volume":"39","author":"Rahman","year":"2007","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/ng1942","article-title":"Fanconi anemia is associated with a defect in the BRCA2 partner PALB2","volume":"39","author":"Xia","year":"2007","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C15","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1093\/jnci\/djj268","article-title":"Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk","volume":"98","author":"Fletcher","year":"2006","journal-title":"J. Natl. Cancer Inst."},{"key":"key\n\t\t\t\t20171012173148_DDM050C16","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1001\/jama.1997.03550150046034","article-title":"BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing","volume":"278","author":"Shattuck-Eidens","year":"1997","journal-title":"JAMA"},{"key":"key\n\t\t\t\t20171012173148_DDM050C17","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1086\/500848","article-title":"Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes","volume":"78","author":"Wu","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C18","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/gepi.10261","article-title":"Polygenic inheritance of breast cancer: Implications for design of association studies","volume":"25","author":"Antoniou","year":"2003","journal-title":"Genet. Epidemiol."},{"key":"key\n\t\t\t\t20171012173148_DDM050C19","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1038\/bjc.1998.366","article-title":"BRCA1 mutations in southern England","volume":"77","author":"Eccles","year":"1998","journal-title":"Br. J. Cancer"},{"key":"key\n\t\t\t\t20171012173148_DDM050C20","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1054\/bjoc.2001.2016","article-title":"Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer","volume":"85","author":"Steinmann","year":"2001","journal-title":"Br. J. Cancer"},{"key":"key\n\t\t\t\t20171012173148_DDM050C21","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1023\/B:JOMG.0000048770.90334.3b","article-title":"The genetic epidemiology of breast cancer genes","volume":"9","author":"Thompson","year":"2004","journal-title":"J. Mammary Gland. Biol. Neoplasia"},{"key":"key\n\t\t\t\t20171012173148_DDM050C22","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral","volume":"43","author":"Tavtigian","year":"2006","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C23","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1182\/blood-2005-12-5022","article-title":"Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia","volume":"108","author":"Rudd","year":"2006","journal-title":"Blood"},{"key":"key\n\t\t\t\t20171012173148_DDM050C24","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1101\/gr.5120106","article-title":"Variants in the GH-IGF axis confer susceptibility to lung cancer","volume":"16","author":"Rudd","year":"2006","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20171012173148_DDM050C25","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.1093\/hmg\/ddl401","article-title":"Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives","volume":"15","author":"Webb","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C26","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1158\/1055-9965.EPI-05-0469","article-title":"The predicted impact of coding single nucleotide polymorphisms database","volume":"14","author":"Rudd","year":"2005","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"key":"key\n\t\t\t\t20171012173148_DDM050C27","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. The Gene Ontology Consortium","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C28","doi-asserted-by":"crossref","first-page":"D277","DOI":"10.1093\/nar\/gkh063","article-title":"The KEGG resource for deciphering the genome","volume":"32","author":"Kanehisa","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20171012173148_DDM050C29","doi-asserted-by":"crossref","first-page":"D54","DOI":"10.1093\/nar\/gki031","article-title":"Entrez Gene: gene-centered information at NCBI","volume":"33","author":"Maglott","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20171012173148_DDM050C30","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"key\n\t\t\t\t20171012173148_DDM050C31","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20171012173148_DDM050C32","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20171012173148_DDM050C33","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1093\/carcin\/21.11.1977","article-title":"Identification of single nucleotide polymorphisms in human DNA repair genes","volume":"21","author":"Ford","year":"2000","journal-title":"Carcinogenesis"},{"key":"key\n\t\t\t\t20171012173148_DDM050C34","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1093\/hmg\/11.12.1399","article-title":"Variants in DNA double-strand break repair genes and breast cancer susceptibility","volume":"11","author":"Kuschel","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20171012173148_DDM050C35","first-page":"1054","article-title":"Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans","volume":"11","author":"Mohrenweiser","year":"2002","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"key":"key\n\t\t\t\t20171012173148_DDM050C36","doi-asserted-by":"crossref","first-page":"15992","DOI":"10.1073\/pnas.0407187101","article-title":"Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas","volume":"101","author":"Fearnhead","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20171012173148_DDM050C37","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1158\/1055-9965.801.13.5","article-title":"Identifying functional genetic variants in DNA repair pathway using protein conservation analysis","volume":"13","author":"Savas","year":"2004","journal-title":"Cancer Epidemiol. Biomarkers Prev."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/16\/9\/1051\/17244140\/ddm050.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T21:54:06Z","timestamp":1683755646000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/16\/9\/1051\/687678\/Counting-potentially-functional-variants-in-BRCA1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,6]]},"references-count":37,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2007,3,6]]},"published-print":{"date-parts":[[2007,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddm050","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2007,5,1]]},"published":{"date-parts":[[2007,3,6]]}}}