Journal
BMC CANCER
Volume 22, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12885-022-09943-0
Keywords
BRCA gene; Breast cancer; Ovarian cancer; Variants; Hakka population
Categories
Funding
- Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translation Research of Hakka Population [2018B030322003]
- Science and Technology Program of Meizhou [2019B0202001]
- Key Scientific and Technological Project of Meizhou People's Hospital [MPHKSTP-20190102]
- Basic and Applied Basic Research Foundation of Guangdong Province [2021A1515220106]
- Scientific Research Cultivation Project of Meizhou People's Hospital [PY-C2020031]
Ask authors/readers for more resources
This study investigated the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. The results showed that the most common pathogenic variants in this population were c.2635G > T in the BRCA1 gene and c.5164_5165delAG in the BRCA2 gene. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients from southern China are different from those in other ethnic groups.
Objective To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. Methods A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions. Results The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups. Conclusions The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available