Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer

Zhang, Juan; Pei, Renguang; Pang, Zhigang; Ouyang, Tao; Li, Jinfeng; Wang, Tianfeng; Fan, Zhaoqing; Fan, Tie; Lin, Benyao; Xie, Yuntao

doi:10.1007/s10549-011-1596-x

Cited by 67 publications

(87 citation statements)

References 37 publications

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“…This finding is in line with a Korean study conducted across 36-centers (22.3%) (17). The mutation rate appears generally lower compared to Western countries (23~35.3%) (18)(19)(20)(21)(22), but higher compared to Peking or Shanghai regions (10.5~18.2%) (23)(24)(25). Lower prevalence of BRCA mutation is in line with comparisons of BC incidence with the Western countries.…”

Section: Discussionsupporting

confidence: 87%

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

et al. 2018

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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

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Section: Discussionsupporting

confidence: 87%

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

et al. 2018

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“…However, the frequency of BRCA2 mutations was much higher than that of BRCA1 in Chinese women (Zhang et al, 2012) and other Asian populations (Han et al, 2006). In contrast, BRCA1 mutation is more common than BRCA2 mutation in Caucasian populations (Hall et al, 2009).…”

Section: Discussionmentioning

confidence: 88%

“…The breast cancer characteristics of Kazakhs include low incidence, early onset age, later clinical stage, and poor prognosis. To date, few studies examining the spectrum of BRCA mutations in China's Kazakh populations have been conducted, and most were performed in Han and Uygur populations (Zhang et al, 2012;Ou et al, 2013;Cao et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

“…Three founder mutations, 187delAG and 5382insC in BRCA1 and 6174delT in BRCA2, have been well-characterized and have an estimated prevalence of 2.5% in the Ashkennazi Jewish population (Roa et al, 1996;Struewing et al, 1997;Fodor et al, 1998). A few studies on BRCA1/2 mutations have been reported in familial or early-onset breast cancer patients from China (Zhang et al, 2012;Cao et al, 2014), but little information is available regarding BRCA1/2 mutations in sporadic breast cancers, particularly in the Kazakh ethnic group in China.…”

Section: Introductionmentioning

confidence: 99%

“…Few studies have reported BRCA1/2 mutations in Chinese multiple ethnic groups in high-risk breast cancer patients (Li et al, 2008;Zhang et al, 2012). Additionally, few studies have investigated the clinical-pathological characteristics of BRCA1/2 tumors in the Kazakh ethnic population in China.…”

Section: Introductionmentioning

confidence: 99%

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Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China

Yang

Aisimutula

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clinical-pathologic features of Kazakh breast cancer patients and BRCA1/2 mutations were also investigated. Two unclassified variants (T539M and T1915M) and 16 polymorphisms were detected in this study, 4 of which (G356A, His743, Asn991Asp, Val1269) were detected more frequently in breast cancer patients than in healthy controls. We observed a higher prevalence of BRCA1/2 common sequence alterations and a large number of Kazakh women carrying multiple coexisting BRCA1/2 mutations. The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations. Although no significant differences were observed, BRCA1/2 carriers were generally younger at diagnosis (2015) of wild-type breast cancer patients. BRCA1-associated Kazakh sporadic breast cancers present with high tumor grade, early stage, negative lymph node status, absence of estrogen receptor expression and progesteronepositive status. Estrogen receptor expression was the only predominant histological type in BRCA2 carriers. In this study, we determined the BRCA1 and BRCA2 gene mutation status and determined the association with clinical-pathologic characteristics in a Chinese Kazakh population. Larger population-based screening studies screening the entire coding region of BRCA1/2 are required to evaluate the breast cancer risk induced by the sequence alterations detected in this study.

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BRCA1 Germ‐Line Mutations and Tumor Characteristics in Eastern Chinese Women with Familial Breast Cancer

Cao

Wang

Gao

et al. 2012

The Anatomical Record

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Although several studies detected the BRCA1 germ-line mutations in Chinese women with familial breast cancer, most of them did not employ conventional full gene sequencing, especially in eastern China. In addition, the clinicopathological features of BRCA1-associated breast cancer in Chinese women were not well investigated. In this study, we screened the complete coding regions and exon-intron boundaries of BRCA1 by polymerase chain reaction (PCR)-sequencing assay. Immunohistochemistry analyses were performed on tumor samples to detect the expression of estrogen receptor (ER), progesterone receptor (PR), P53, and human epidermal growth factor receptor-2 (HER-2). Breast cancer patients having one or more affected relatives referred from the Zhejiang Cancer Hospital, eastern China during 2008-2011 were selected for the study. A total of 62 familial breast cancer patients received the BRCA1 germ-line mutation screening. Five deleterious mutations were detected in this cohort. The mutation rate was 11.3% (7/62). We found two novel mutations (3414delC and 5,280 C > T) and two recurrent mutations (5,273 G > A and 5589del8). BRCA1 mutation tumors tended to be negative for ER, PR, and HER-2, and exhibited high histological grade compared with tumors without BRCA1 mutations. Our study suggests that recurrent mutations may exist in eastern Chinese women with familial breast cancer and PCR-sequencing assay is a useful tool to screen these mutations. It also suggests that BRCA1-associated breast cancers in Chinese women exhibit an aggressive phenotype. Anat Rec,

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Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer

Cited by 67 publications

References 37 publications

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

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

Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China

BRCA1 Germ‐Line Mutations and Tumor Characteristics in Eastern Chinese Women with Familial Breast Cancer

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