{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:57:38Z","timestamp":1791262658395,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,1,24]],"date-time":"2006-01-24T00:00:00Z","timestamp":1138060800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>BACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts <jats:italic>in vivo<\/jats:italic> with BRCA1, the protein product of one of the major genes for hereditary predisposition to breast cancer. Previously, two <jats:italic>BACH1<\/jats:italic> germ line missense mutations have been identified in early-onset breast cancer patients with and without family history of breast and ovarian cancer.<\/jats:p>\n            <jats:p>In this study, we aimed to evaluate whether there are <jats:italic>BACH1<\/jats:italic> genetic variants that contribute to breast cancer risk in Finland.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>The <jats:italic>BACH1<\/jats:italic> gene was screened for germ line alterations among probands from 43 Finnish <jats:italic>BRCA1\/2<\/jats:italic> negative breast cancer families. Recently, one of the observed common variants, Ser-allele of the Ser919Pro polymorphism, was suggested to associate with an increased breast cancer risk, and was here evaluated in an independent, large series of 888 unselected breast cancer patients and in 736 healthy controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Six <jats:italic>BACH1<\/jats:italic> germ line alterations were observed in the mutation analysis, but none of these were found to associate with the cancer phenotype. The Val193Ile variant that was seen in only one family was further screened in an independent series of 346 familial breast cancer cases and 183 healthy controls, but no additional carriers were observed. Individuals with the <jats:italic>BACH1<\/jats:italic> Ser919-allele were not found to have an increased breast cancer risk when the Pro\/Ser heterozygotes (OR 0.90; 95% CI 0.70\u20131.16; p = 0.427) or Ser\/Ser homozygotes (OR 1.02; 95% CI 0.76\u20131.35; p = 0.91) were compared to Pro\/Pro homozygotes, and there was no association of the variant with any breast tumor characteristics, age at cancer diagnosis, family history of cancer, or survival.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Our results suggest that the <jats:italic>BACH1<\/jats:italic> Ser919 is not a breast cancer predisposition allele in the Finnish study population. Together with previous studies, our results also indicate that although some rare germ line variants in <jats:italic>BACH1<\/jats:italic> may contribute to breast cancer development, the contribution of <jats:italic>BACH1<\/jats:italic> germline alterations to familial breast cancer seems marginal.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-6-19","type":"journal-article","created":{"date-parts":[[2006,1,27]],"date-time":"2006-01-27T19:14:39Z","timestamp":1138389279000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["BACH1 Ser919Pro variant and breast cancer risk"],"prefix":"10.1186","volume":"6","author":[{"given":"Pia","family":"Vahteristo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiina","family":"Yliannala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anitta","family":"Tamminen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannaleena","family":"Eerola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Blomqvist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,1,24]]},"reference":[{"key":"371_CR1","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 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