Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men.
Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men.
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DOI：
10.1371/journal.pgen.1002290
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发表时间：
2011-09
期刊：
影响因子：
4.5
通讯作者：
Swerdlow A
中科院分区：
文献类型：
--
作者：
Orr N;Cooke R;Jones M;Fletcher O;Dudbridge F;Chilcott-Burns S;Tomczyk K;Broderick P;Houlston R;Ashworth A;Swerdlow A
男性乳腺癌约占所有乳腺癌的1%。到目前为止，男性乳腺癌的风险因素定义不清，但某些风险因素和遗传特征似乎对男性和女性乳腺癌都很常见。全基因组关联研究（GWAS）最近发现了影响女性乳腺癌风险的常见单核苷酸多态性（SNP）;其中12个已被独立复制。为了研究这些变异是否会增加男性乳腺癌的风险，我们对433例男性乳腺癌病例和1,569例对照进行了基因分型。5个SNP与男性乳腺癌有统计学显著相关性：rs 13387042（2 q35）（OR = 1.30，p = 7.98×10−4），rs 10941679（5 p12）（OR = 1.26，p = 0.007），rs 9383938（6q25.1）（OR = 1.39，p = 0.004），rs 2981579（FGFR 2）（OR = 1.18，p = 0.03）和rs3803662（TOX 3）（OR = 1.48，p = 4.04×10−6）。 将男性乳腺癌的OR与已发表的女性乳腺癌的OR进行比较，三个SNP-rs 13387042（2 q35），rs3803662（TOX 3）和rs6504950（COX 11）-显示了性别间OR的显著差异（p<0.05）。乳腺癌是一种异质性疾病;与迄今为止确定的基因座相关的相对风险显示亚型，并基于这些数据显示性别特异性。对明确定义的患者亚组的进一步研究可以进一步了解乳腺癌发展的生物学基础。乳腺癌是英国最常见的女性癌症，但也发生在男性中，尽管频率要低得多。关于男性乳腺癌的危险因素知之甚少。在这里，我们研究了已知与女性乳腺癌相关的常见遗传变异的影响，以确定它们是否也影响男性乳腺癌的风险。我们发现，这些变异中的某些也与男性乳腺癌风险有关，但其影响程度在男性和女性中不同。未来对男性乳腺癌遗传学的分析可能会揭示男性和女性乳腺癌的生物学。
Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleotide polymorphisms (SNPs) that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer risk, we genotyped 433 male breast cancer cases and 1,569 controls. Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) (odds ratio (OR) = 1.30, p = 7.98×10−4), rs10941679 (5p12) (OR = 1.26, p = 0.007), rs9383938 (6q25.1) (OR = 1.39, p = 0.004), rs2981579 (FGFR2) (OR = 1.18, p = 0.03), and rs3803662 (TOX3) (OR = 1.48, p = 4.04×10−6). Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs—rs13387042 (2q35), rs3803662 (TOX3), and rs6504950 (COX11)—showed significant differences in ORs (p<0.05) between sexes. Breast cancer is a heterogeneous disease; the relative risks associated with loci identified to date show subtype and, based on these data, gender specificity. Additional studies of well-defined patient subgroups could provide further insight into the biological basis of breast cancer development. Breast cancer is the most common female cancer in the United Kingdom but also occurs in men, albeit at a much lower frequency. Relatively little is known regarding risk factors for male breast cancer. Here, we examine the effect of common genetic variants that are known to be associated with female breast cancer to determine whether they also affect risk of male breast cancer. We show that certain of these variants are also associated with male breast cancer risk but that the magnitudes of their effects differ in males from females. Future analyses of the genetics of male breast cancer may shed light on the biology of both male and female breast cancer.
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30.8
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254.7
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