Abstract
Breast cancer is the most common malignancy among women and has a strong genetic background. So far, 13 breast cancer susceptibility genes of high or moderate penetrance have been identified. This review summarizes findings on these genes in Han Chinese. BRCA1 and BRCA2 are the 2 most important susceptibility genes. They have a relatively low mutation rate, and the most frequent sites of mutation are in exon 11. Frameshift mutations are the main type of mutation. Founder mutations may also exist, and BRCA-associated breast cancer has specific clinicopathologic characteristics. TP53 and PALB2 are relatively rare susceptibility genes. The relationship between the other 9 genes and breast cancer has not been fully elucidated. At present, the mutation spectrum for these susceptibility genes is not well understood in the Chinese population, and there are few reports on prognosis and clinical intervention in high-risk populations. Therefore, the true value of genetic counseling for breast cancer has yet to be realized. This article reviews studies of hereditary breast cancer in the Han Chinese population, highlights potential inadequacies, and provides a foundation for genetic counseling for breast cancer in China.
Highlights
Breast cancer has an incidence rate of 16.39 per 100 000 Chinese women and seriously affects the lives and health of this population
Several single nucleotide polymorphisms (SNPs) associated with breast cancer risk have been identified as low-penetrance susceptibility polymorphisms within genes, the frequencies of these polymorphisms substantially differ between races, which leads to inconsistent results
Chen et al[65] used the GenomeLab SNPstream 12-plex Genotyping System to study SNPs of PALB2 in a cohort of 1049 breast cancer cases and 1073 controls in a Chinese population. They confirmed that rs249954, rs120963, and rs16940342 were associated with 36% (P = 0.001; TT/TC vs CC genotypes), 25% (P = 0.014; CC/CT vs TT genotypes), and 21% (P = 0.037; GG/GA vs AA genotypes) increases in breast cancer risk, respectively, while rs249935 was not associated with breast cancer risk
Summary
Deng et al[10] Suter et al[11] Zhou et al[12] Li et al[13] Huang et al[14] Thirthagiri et al[15]. HBC (18) HBC (16) Early-BC (60) HBC (16) Early-BC (20) HBC (9) HBC + SBC (645) HBC + Early-BC (14) HBOC + Bi-BOC (25) HBC (19) HBOC (78) + Early-BC (40). Early-BC (228) SBC (426) HBC (68) Early-BC (71) Early-BC (41) High-risk BC + OC (119) HBC (54) Early-BC (36) HBC (12) HBC (409). Further research is needed to evaluate low-penetrance susceptibility genes and their association with breast cancer risk in the Chinese population. It is too early for low-penetrance susceptibility genes to be described as the target of genetic counseling in Chinese population. We have chosen to review studies of moderateand high-penetrance breast cancer susceptibility genes in the Han Chinese population
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