Abstract The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known pathogenic role in breast cancer. The present study investigated in North Indian breast cancer patients the association of risk with four reported pathogenic variants of BRCA1: c.190T>C (p.Cys64Arg), 1307delT, g.5331G>A (p.G1738R) and c.2612C>T (p.Pro871Leu). Genotyping was done by PCR-RFLP method in 255 clinically confirmed breast cancer patients and 255 age and gender matched healthy individuals. For c.190T>C, 1307delT and g.5331G>A, all the patients and controls had the wild-type genotype indicating no association with breast cancer risk. For c.2612C>T polymorphism, the frequency of the CC, CT, and TT genotypes was 14.5 vs 15.7%, 59.6 vs 53.7% and 25.9 vs 30.6% in breast cancer patients and controls respectively. The frequency of heterozygotes (CT genotype) was higher in cases than controls but the difference was not statistically significant. Genetic model analysis showed no association of the four analyzed BRCA1 variants with breast cancer risk with any model. The studied variants were not associated with the risk of breast cancer in Punjab, North west India, suggesting a need for further screening of other BRCA1 variants. It is the first reported study on these 4 variants from India.

中文翻译：

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在印度北部乳腺癌患者中筛选 BRCA1 变异 c.190T>C、1307delT、g.5331G>A 和 c.2612C>T

摘要 BRCA1 的多态性变异导致氨基酸取代，在乳腺癌中具有已知的致病作用。本研究调查了北印度乳腺癌患者的风险与四种已报道的 BRCA1 致病变异的关联：c.190T>C (p.Cys64Arg)、1307delT、g.5331G>A (p.G1738R) 和 c.2612C> T (p.Pro871Leu)。采用 PCR-RFLP 方法对 255 名临床确诊的乳腺癌患者和 255 名年龄和性别匹配的健康个体进行基因分型。对于 c.190T>C、1307delT 和 g.5331G>A，所有患者和对照均具有野生型基因型，表明与乳腺癌风险无关。对于 c.2612C>T 多态性，乳腺癌患者和对照组中 CC、CT 和 TT 基因型的频率分别为 14.5 vs 15.7%、59.6 vs 53.7% 和 25.9 vs 30.6%。杂合子（CT 基因型）的频率在病例中高于对照组，但差异无统计学意义。遗传模型分析显示，四种分析的 BRCA1 变体与任何模型都与乳腺癌风险无关。研究的变异与印度西北部旁遮普邦的乳腺癌风险无关，这表明需要进一步筛查其他 BRCA1 变异。这是印度对这 4 种变体的首次报告研究。表明需要进一步筛选其他 BRCA1 变体。这是印度对这 4 种变体的首次报告研究。表明需要进一步筛选其他 BRCA1 变体。这是印度对这 4 种变体的首次报告研究。