{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T14:28:30Z","timestamp":1788272910192,"version":"build-2803163510"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2005,10,24]],"date-time":"2005-10-24T00:00:00Z","timestamp":1130112000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2005,10,24]],"date-time":"2005-10-24T00:00:00Z","timestamp":1130112000000},"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>Mutations in the <jats:italic>BRCA2<\/jats:italic> gene are one of the two major causes of hereditary breast cancer. Protein-truncating mutations of BRCA2 are usually deleterious and increase the risk of breast cancer up to 80% over a lifetime. A few missense mutations in <jats:italic>BRCA2<\/jats:italic> are believed to have a similarly high penetrance, apart from more common neutral polymorphisms. It is often difficult to classify a particular sequence variant as a mutation or a polymorphism. For a deleterious variant, one would expect a greater allele frequency in breast cancer cases than in ethnic-matched controls. In contrast, neutral polymorphic variants should be equally frequent in the two groups.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p>We genotyped 3,241 cases of breast cancer diagnosed at under 51 years of age, unselected for family history, from 18 hospitals throughout Poland and 2,791 ethnic-matched controls for a single <jats:italic>BRCA2<\/jats:italic> C5972T variant.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>The variant was present in approximately 6% of the Polish population. In the study, 13 women (11 cases and two controls (OR = 4.7; p = 0.02)) were homozygous for the variant allele. The overall odds ratio for breast cancer in women with a single copy of the <jats:italic>BRCA2<\/jats:italic> C5972T variant was 1.1 (p = 0.7); however, the effect was significant for patients diagnosed at or before age 40 (OR = 1.4; p = 0.04). We reviewed the association between the <jats:italic>BRCA2<\/jats:italic> variant in different histologic subgroups and found the effect most pronounced in women who had ductal carcinoma <jats:italic>in situ<\/jats:italic> (DCIS) with micro-invasion (OR = 2.8; p &lt; 0.0001).<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusion<\/jats:title>\n                        <jats:p>The <jats:italic>BRCA2<\/jats:italic> C5972T allele is a common variant in Poland that increases the risk of DCIS with micro-invasion. The homozygous state is rare but increases the risk of breast cancer five-fold.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr1338","type":"journal-article","created":{"date-parts":[[2005,10,25]],"date-time":"2005-10-25T06:13:48Z","timestamp":1130220828000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A common missense variant in BRCA2 predisposes to early onset breast cancer"],"prefix":"10.1186","volume":"7","author":[{"given":"Bohdan","family":"G\u00f3rski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A","family":"Narod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Lubi\u0144ski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,10,24]]},"reference":[{"key":"1317_CR1","doi-asserted-by":"publisher","first-page":"1963","DOI":"10.1086\/302922","volume":"66","author":"B G\u00f3rski","year":"2000","unstructured":"G\u00f3rski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, et al: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. 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