BACH1 Ser919Pro variant and breast cancer risk.
BACH1 Ser919Pro variant and breast cancer risk.
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DOI：
10.1186/1471-2407-6-19
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发表时间：
2006-01-24
期刊：
影响因子：
3.8
通讯作者：
Nevanlinna, H
中科院分区：
文献类型：
--
作者：
Vahteristo, P;Yliannala, K;Tamminen, A;Eerola, H;Blomqvist, C;Nevanlinna, H
BACH1(BRCA1相关的C末端解旋酶1，又称BRCA1相互作用蛋白1，BRIP1)是一种在体内与BRCA1相互作用的解旋酶蛋白，BRCA1是乳腺癌遗传易感性的主要基因之一的蛋白产物。此前，已在有和没有乳腺癌和卵巢癌家族史的早发性乳腺癌患者中发现了两个BACH1胚系错义突变。在这项研究中，我们的目的是评估在芬兰是否存在BACH1基因变异导致乳腺癌风险。在43个BRCA1/2阴性的芬兰乳腺癌家系的先证者中，对BACH1基因进行了胚系突变筛查。最近，观察到的常见变异之一，Ser919Pro多态的Ser919Pro等位基因，被认为与乳腺癌风险增加有关，并在888名未选择的乳腺癌患者和736名健康对照中进行了独立的大系列评估。在突变分析中观察到6个BACH1胚系改变，但没有发现与癌症表型相关。在346例家族性乳腺癌患者和183名健康对照的独立系列中进一步筛查了仅在一个家族中出现的Val193Ile变异，但没有观察到额外的携带者。携带BACH1Ser919等位基因的个体在Pro/Ser杂合子(OR0.90；95%CI0.70~1.16；p=0.427)或Ser/Ser纯合子(OR1.02；95%CI0.76~1.35；p=0.91)与Pro/Pro纯合子比较时，未发现乳腺癌风险增加，且该变异与任何乳腺癌特征、癌症诊断年龄、癌症家族史或生存期无关。我们的结果表明，在芬兰研究人群中，BACH1 Ser919不是乳腺癌的易感等位基因。结合以前的研究，我们的结果还表明，尽管BACH1中一些罕见的胚系变异可能有助于乳腺癌的发生，但BACH1胚系突变对家族性乳腺癌的贡献似乎微乎其微。
BACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts in vivo with BRCA1, the protein product of one of the major genes for hereditary predisposition to breast cancer. Previously, two BACH1 germ line missense mutations have been identified in early-onset breast cancer patients with and without family history of breast and ovarian cancer. In this study, we aimed to evaluate whether there are BACH1 genetic variants that contribute to breast cancer risk in Finland. The BACH1 gene was screened for germ line alterations among probands from 43 Finnish BRCA1/2 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. Six BACH1 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 BACH1 Ser919-allele were not found to have an increased breast cancer risk when the Pro/Ser heterozygotes (OR 0.90; 95% CI 0.70–1.16; p = 0.427) or Ser/Ser homozygotes (OR 1.02; 95% CI 0.76–1.35; 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. Our results suggest that the BACH1 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 BACH1 may contribute to breast cancer development, the contribution of BACH1 germline alterations to familial breast cancer seems marginal.
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