Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases.
Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases.
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DOI：
10.1186/bcr1793
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
van Asperen CJ
中科院分区：
文献类型：
--
作者：
Huijts PE;Vreeswijk MP;Kroeze-Jansema KH;Jacobi CE;Seynaeve C;Krol-Warmerdam EM;Wijers-Koster PM;Blom JC;Pooley KA;Klijn JG;Tollenaar RA;Devilee P;van Asperen CJ
最近发现五个基因组位点的七个单核苷酸多态性（SNP）会略微增加患乳腺癌的风险。我们在一个由 1,267 名连续原发性乳腺癌患者组成的未经选择的前瞻性队列中研究了疾病特征与这些 SNP 的患者基因型之间的相关性。相对于主要等位基因纯合子携带者，MAP3K1 基因中 SNP rs889312 的杂合子携带者和次要等位基因纯合子携带者在乳腺癌诊断时淋巴结阳性的可能性较小 (P = 0.044)。相对于主要等位基因纯合子携带者，TNCR9 基因附近的 SNP rs3803662 杂合子携带者和次要等位基因纯合子携带者更有可能在 60 岁之前被诊断出来 (P = 0.025)。我们还注意到 FGFR2 中 rs2981582 的次要等位基因的数量与患有乳腺癌和/或卵巢癌的一级和二级亲属的平均数量之间存在相关性 (P = 0.05)。所有其他疾病特征，包括肿瘤大小和分级以及雌激素或孕激素受体状态，与任何这些变异均没有显着相关。最近发现的一些与乳腺癌风险轻度增加相关的基因组变异也与乳腺癌特征或乳腺癌和卵巢癌家族史相关。这些发现为进一步研究这些低风险易感性等位基因提供了有趣的新线索。
Seven SNPs in five genomic loci were recently found to confer a mildly increased risk of breast cancer. We have investigated the correlations between disease characteristics and the patient genotypes of these SNPs in an unselected prospective cohort of 1,267 consecutive patients with primary breast cancer. Heterozygote carriers and minor allele homozygote carriers for SNP rs889312 in the MAP3K1 gene were less likely to be lymph node positive at breast cancer diagnosis (P = 0.044) relative to major allele homozygote carriers. Heterozygote carriers and minor allele homozygote carriers for SNP rs3803662 near the TNCR9 gene were more likely to be diagnosed before the age of 60 years (P = 0.025) relative to major allele homozygote carriers. We also noted a correlation between the number of minor alleles of rs2981582 in FGFR2 and the average number of first-degree and second-degree relatives with breast cancer and/or ovarian cancer (P = 0.05). All other disease characteristics, including tumour size and grade, and oestrogen or progesterone receptor status, were not significantly associated with any of these variants. Some recently discovered genomic variants associated with a mildly increased risk of breast cancer are also associated with breast cancer characteristics or family history of breast cancer and ovarian cancer. These findings provide interesting new clues for further research on these low-risk susceptibility alleles.
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影响因子：
30.8
作者：
Peto, J;Mack, TM
通讯作者：
Mack, TM
影响因子：
1.8
作者：
Steele, IA;Edmondson, RJ;Davies, BR
通讯作者：
Davies, BR
影响因子：
3.5
作者：
Shaag, A;Walsh, T;King, MC
通讯作者：
King, MC
DOI：
10.1093/jnci/91.11.943
发表时间：
1999-06-02
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Peto, J;Collins, N;Stratton, MR
通讯作者：
Stratton, MR
影响因子：
10.3
作者：
Lakhani, SR;Jacquemier, J;Easton, DF
通讯作者：
Easton, DF