Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

Abstract

Abstract. Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC).Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA -patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive

Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer

“…In this study, we found that patients with triple‐negative breast cancer had a higher BRCA1 mutation rate than those with non‐triple‐negative breast cancer. Our results agree with those of previous studies in Chinese patients with breast cancer (Li et al, ; Liang et al, ; Wei et al, ). We did not find significant associations between BRCA1/2 mutation status and age; family history of breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer; number of primary lesions; tumor size; or lymph node metastasis.…”

“…In this study, 11 BRCA1 mutations were detected in Chinese patients with breast cancer. Four of these mutations (c.1934delC, c.2138C>G, c.2572C>T, and c.3916_3917delTT) have been reported in Chinese populations (Li et al, ; Liang et al, ; Wei et al, ). Five BRCA1 variants have not been reported in the BIC and/or ClinVar databases.…”

“…Although there are several studies on BRCA1/2 mutations in Chinese patients with hereditary breast cancer (Kim et al, ; Li et al, ; Liang et al, ; Liu et al, ; Wang et al, , ; Wei et al, ; Xie, Gou, Wang, Zhong, & Zheng, ), the sample sizes in many of these studies are relatively small (Liu et al, ; Wang et al, ; Xie et al, ). In addition, no study has been conducted in patients with breast cancer from the Northern Frontier and Northeast regions of China to date.…”

Long-term Survival of Screen-Detected Synchronous and Metachronous Bilateral Non-Palpable Breast Cancer among Chinese women: A Hospital-Based Study (2003-2017)

“…Several studies suggest that BBC is one of the related clinical factors that increases the probability of BRCA mutations [9,20] and remains one of the criteria for recommendation of genetic testing [21]. BRCA mutation rate was about 24% among Chinese women with BBC [20].…”

“…Several studies suggest that BBC is one of the related clinical factors that increases the probability of BRCA mutations [9,20] and remains one of the criteria for recommendation of genetic testing [21]. BRCA mutation rate was about 24% among Chinese women with BBC [20]. Interval breast cancers among BRCA mutation carriers have worse clinicopathologic features than screen-detected tumors, and require more aggressive medical and surgical therapy [6].…”