The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients

被引:20
作者
Saleem, Mohamed [1 ,2 ]
Ghazali, Mohd Bazli [1 ,3 ]
Wahab, Md Azlan Mohamed Abdul [1 ]
Yusoff, Narazah Mohd [1 ]
Mahsin, Hakimah [3 ]
Seng, Ch'ng Ewe [1 ]
Khalid, Imran Abdul [3 ]
Rahman, Mohd Nor Gohar [4 ]
Yahaya, Badrul Hisham [1 ]
机构
[1] Univ Sains Malaysia, Adv Med & Dent Inst, Regenerat Med Cluster, George Town, Malaysia
[2] Genomix Lab Sdn Bhd, Petaling Jaya, Selangor, Malaysia
[3] Seberang Jaya Hosp, Surg Dept, Seberang Prai, Malaysia
[4] Univ Sains Malaysia, Sch Med Sci, Surg Dept, Kubang Kerian, Kelantan, Malaysia
来源
CANCER BIOLOGY AND ADVANCES IN TREATMENT | 2020年 / 1292卷
关键词
BRCA1; BRCA2; Breast cancer; Early onset; SINGLE-NUCLEOTIDE POLYMORPHISMS; FAMILY-HISTORY; RISK; ASSOCIATION; MUTATIONS;
D O I
10.1007/5584_2018_147
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Approximately 5-10% of breast cancers are attributable to genetic susceptibility. Mutations in the BRCA1 and BRCA2 genes are the best known genetic factors to date. The goal of this study was to determine the structure and distribution of haplotypes of the BRCA1 and BRCA2 genes in early-onset breast cancer patients. We enrolled 70 patients diagnosed with early-onset breast cancer. A total of 21 SNPs (11 on BRCA1 and 10 on BRCA2) and 1 dinucleotide deletion on BRCA1 were genotyped using nested allele-specific PCR methods. Linkage disequilibrium (LD) analysis was conducted, and haplotypes were deduced from the genotype data. Two tightly linked LD blocks were observed on each of the BRCA1 and BRCA2 genes. Variant-free haplotypes (TAT-AG for BRCA1 and ATA-AAT for BRCA2) were observed at a frequency of more than 50% on each gene along with variable frequencies of derived haplotypes. The variant 3'-subhaplotype CGC displayed strong LD with 5'-subhaplotypes GA, AA, and GG on BRCA1 gene. Haplotypes ATA-AGT, ATC-AAT, and ATA-AAC were the variant haplotypes frequent on BRCA2 gene. Although the clinical significance of these derived haplotypes has not yet been established, it is expected that some of these haplotypes, especially the less frequent subhaplotypes, eventually will be shown to be indicative of a predisposition to early-onset breast cancer.
引用
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页码:1 / 12
页数:12
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