{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T02:29:39Z","timestamp":1784255379671,"version":"3.55.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2004,12,16]],"date-time":"2004-12-16T00:00:00Z","timestamp":1103155200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2004,12,16]],"date-time":"2004-12-16T00:00:00Z","timestamp":1103155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                        <jats:title>Introduction<\/jats:title>\n                        <jats:p>Truncation mutations in the <jats:italic>BRCA1<\/jats:italic> gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Method<\/jats:title>\n                        <jats:p>We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of <jats:italic>BRCA1<\/jats:italic> and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls).<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02\u20131.37). A significant interaction (<jats:italic>P<\/jats:italic> = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusions<\/jats:title>\n                        <jats:p>We have described a haplotype in the <jats:italic>BRCA1<\/jats:italic> gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr973","type":"journal-article","created":{"date-parts":[[2005,1,12]],"date-time":"2005-01-12T20:28:42Z","timestamp":1105561722000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer"],"prefix":"10.1186","volume":"7","author":[{"given":"David G","family":"Cox","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E","family":"Hankinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,12,16]]},"reference":[{"key":"972_CR1","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1093\/hmg\/6.2.285","volume":"6","author":"AM Dunning","year":"1997","unstructured":"Dunning AM, Chiano M, Smith NR, Dearden J, Gore M, Oakes S, Wilson C, Stratton M, Peto J, Easton D, et al: Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum Mol Genet. 1997, 6: 285-289. 10.1093\/hmg\/6.2.285.","journal-title":"Hum Mol Genet"},{"key":"972_CR2","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1093\/hmg\/5.6.835","volume":"5","author":"F Durocher","year":"1996","unstructured":"Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J: Comparison of BRCA1 polymorphisms, rare sequence variants and\/or missense mutations in unaffected and breast\/ovarian cancer populations. Hum Mol Genet. 1996, 5: 835-842. 10.1093\/hmg\/5.6.835.","journal-title":"Hum Mol Genet"},{"key":"972_CR3","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1038\/78092","volume":"25","author":"GA Huttley","year":"2000","unstructured":"Huttley GA, Easteal S, Southey MC, Tesoriero A, Giles GG, McCredie MR, Hopper JL, Venter DJ: Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Nat Genet. 2000, 25: 410-413. 10.1038\/78092.","journal-title":"Nat Genet"},{"key":"972_CR4","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/gcc.10111","volume":"35","author":"E Kolomietz","year":"2002","unstructured":"Kolomietz E, Meyn MS, Pandita A, Squire JA: The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer. 2002, 35: 97-112. 10.1002\/gcc.10111.","journal-title":"Genes Chromosomes Cancer"},{"key":"972_CR5","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.1126\/science.1089670","volume":"303","author":"HH Kazazian Jr","year":"2004","unstructured":"Kazazian HH: Mobile elements: drivers of genome evolution. Science. 2004, 303: 1626-1632. 10.1126\/science.1089670.","journal-title":"Science"},{"key":"972_CR6","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1016\/S0092-8674(00)81302-1","volume":"85","author":"R Hakem","year":"1996","unstructured":"Hakem R, de la Pompa JL, Sirard C, Mo R, Woo M, Hakem A, Wakeham A, Potter J, Reitmair A, Billia F, et al: The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell. 1996, 85: 1009-1023. 10.1016\/S0092-8674(00)81302-1.","journal-title":"Cell"},{"key":"972_CR7","unstructured":"NIEHS SNPs: NIEHS Environmental Genome Project, University of Washington, Seattle, WA, USA. (accessed April 2004), [http:\/\/egp.gs.washington.edu]"},{"key":"972_CR8","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1086\/379378","volume":"73","author":"M Stephens","year":"2003","unstructured":"Stephens M, Donnelly P: A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet. 2003, 73: 1162-1169. 10.1086\/379378.","journal-title":"Am J Hum Genet"},{"key":"972_CR9","doi-asserted-by":"publisher","first-page":"9900","DOI":"10.1073\/pnas.1633613100","volume":"100","author":"P Sebastiani","year":"2003","unstructured":"Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF: Minimal haplotype tagging. Proc Natl Acad Sci USA. 2003, 100: 9900-9905. 10.1073\/pnas.1633613100.","journal-title":"Proc Natl Acad Sci USA"},{"key":"972_CR10","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1159\/000073202","volume":"55","author":"DO Stram","year":"2003","unstructured":"Stram DO, Leigh Pearce C, Bretsky P, Freedman M, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Thomas DC: Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered. 2003, 55: 179-190. 10.1159\/000073202.","journal-title":"Hum Hered"},{"key":"972_CR11","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1086\/303076","volume":"67","author":"MA Unger","year":"2000","unstructured":"Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, Lenoir GM, Mazoyer S, Weber BL: Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet. 2000, 67: 841-850. 10.1086\/303076.","journal-title":"Am J Hum Genet"},{"key":"972_CR12","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1038\/sj.ejhg.5200969","volume":"11","author":"A Osorio","year":"2003","unstructured":"Osorio A, de la Hoya M, Rodriguez-Lopez R, Granizo JJ, Diez O, Vega A, Duran M, Carracedo A, Baiget M, Caldes T, et al: Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations. Eur J Hum Genet. 2003, 11: 489-492. 10.1038\/sj.ejhg.5200969.","journal-title":"Eur J Hum Genet"},{"key":"972_CR13","unstructured":"HapMap Home Page. [http:\/\/www.hapmap.org]"}],"container-title":["Breast Cancer Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/bcr973.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/bcr973\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/bcr973.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T10:37:09Z","timestamp":1728383829000},"score":1,"resource":{"primary":{"URL":"https:\/\/breast-cancer-research.biomedcentral.com\/articles\/10.1186\/bcr973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,16]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2005,4]]}},"alternative-id":["972"],"URL":"https:\/\/doi.org\/10.1186\/bcr973","relation":{},"ISSN":["1465-542X"],"issn-type":[{"value":"1465-542X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,16]]},"assertion":[{"value":"12 August 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 November 2004","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 November 2004","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2004","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"R171"}}