Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China

• Published in: International journal of clinical and experimental pathology Vol. 7; no. 9; pp. 6262 - 6269
• Main Authors: Sun, Liping, Liu, Junjie, Wang, Sida, Chen, Yuanyuan, Li, Zhixian
• Format: Journal Article
• Language: English
• Published: United States e-Century Publishing Corporation 01.01.2014
• Subjects: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Asian Continental Ancestry Group - genetics; Biomarkers, Tumor - analysis; Biomarkers, Tumor - genetics; BRCA1 Protein - genetics; Breast Neoplasms - chemistry; Breast Neoplasms - ethnology; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Case-Control Studies; Chi-Square Distribution; China - epidemiology; DNA Mutational Analysis; Exons; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Middle Aged; Mutation; Neoplasm Grading; Original; Phenotype; Predictive Value of Tests; Risk Factors; Triple Negative Breast Neoplasms - ethnology; Triple Negative Breast Neoplasms - genetics; Young Adult; China; histopathology; Breast cancer; pathology; BRCA1 gene mutation
• ISSN: 1936-2625

The prevalence of breast cancer susceptibility gene 1 mutation in breast cancer patients of south China has not been well revealed. This study was to invest the prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China, and to try reflecting its relevance in genetic counseling of breast cancer. In this study, 463 breast cancer patients and 30 healthy women (control group) were involved. Entire sequence and splicing sites of BRCA1 genes were detected by PCR-DNA sequencing. About 8.9% (41/463) patients were with 22 BRCA1 mutations (all in exon 10). The average hospitalized age of BRCA1-associated breast cancer cases was significantly younger (t = -2.965, P = 0.003). The nuclear grade (U = 2321.0, P = 0.030), ER (U = 4343.5, P = 0.041) and CerbB-2 (U = 3894.0, P = 0.038) expression levels, and triple negative breast cancer diagnosing rate (χ(2) = 4.719, P = 0.03) were disclosed more in BRCA1-associated patients. The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 624 C > T) found in female breast cancer cases in Guangxi are all located in exon 10. BRCA1-associated breast cancer cases have earlier onset age, higher nuclear grade and negative ER and CerbB-2 expression.