Identification of genetic variants associated with breast cancer risk in the Asian population


Breast cancer is the most common female invasive cancer in the world. Past research using databases focusing on Western population has identified 13 breast cancer susceptibility genes. To learn more about variants associated with breast cancer in Asians, a recent study published in the journal Carcinogenesis analyzed data from individuals of Asian descent, including individuals from China, Japan, Taiwan, South Korea, Singapore and Thailand. The researchers analyzed 654 single nucleotide polymorphisms (SNPs) from the Breast Cancer Association Consortium (BCAC, 6269 cases and 6624 controls) and 236 SNPs from the Shanghai Breast Cancer Genetics Study (SBCGS, 5794 cases and 5529 controls). They identified nine cancer risk-associated variants in the genes BRCA1/2, CHEK and PALB2. Among those variants is the BRCA2 variant rs80359065 (Lys2729Asn), which was associated with a breast cancer risk of 35 %.

Limitations of the study include a limited exon coverage, and next-generation sequencing approaches may be able to provide more comprehensive data in the future. In conclusion, the study shows that genetic variants associated with breast cancer risk differ significantly between Asian and Western populations. Identification of new risk-associated variants can help to improve the accuracy of hereditary breast cancer risk screening.


Han MR et al., Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. Carcinogenesis. 2017 Apr 17.

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