Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer

WM Cao, Y Gao, HJ Yang, SN Xie, XW Ding, ZW Pan… - BMC cancer, 2016 - Springer
… In this study, 133 unrelated Chinese women with familial breast/ovarian cancer living in
Zhejiang, eastern China, were enrolled between the years 2008 and 2014. The complete coding …

Germline variation in BRCA1/2 is highly ethnic‐specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients

SP Bhaskaran, K Chandratre, H Gupta… - … journal of cancer, 2019 - Wiley Online Library
… Breast cancer is the most common cancer among Chinese women, with 260,000 new … ,
and 30% of both BRCA1 and BRCA2 variants remained as unclassified variants (Fig. 1 a). This …

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin… - Nature …, 2022 - nature.com
… elevated carrier frequencies in specific variants that confer milder disease. For instance,
we detected a predominant GJB2 variant among Chinese and Malays; c.109G > A (p.Val37Ile; …

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population

H Dong, K Chandratre, Y Qin, J Zhang, X Tian… - Journal of Medical …, 2021 - jmg.bmj.com
… ), with 13 carrying BRCA1 and 30 carrying BRCA2 variants. Based on these data, we …
variant out of every 265 Chinese Han individuals, and 5.1 million carriers among the Chinese

Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population

D Li, Y Shi, A Li, D Cao, H Su, H Yang, Q Zhi, Y Yang… - Breast Cancer, 2020 - Springer
… Nowadays, breast cancer is the most common cancer among Chinese women, with …
Interestingly, 333 out of 400 inconsistent categorized variants were marked as “unclassified” in …

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population

L Zhang, Z Qin, T Huang, B Tam, Y Ruan… - Journal of Medical …, 2022 - jmg.bmj.com
variants, we tested the Unclassified variants (online supplemental table S8). We selected the
Unclassified variants … based studies conducted among Chinese women. Breast Cancer Res …

[HTML][HTML] Common genetic variants in pre-microRNAs are associated with cervical cancer susceptibility in southern Chinese women

G Chen, M Zhang, J Zhu, F Chen, D Yu, A Zhang… - Journal of …, 2020 - ncbi.nlm.nih.gov
… , squamous cell carcinoma patients, and patients with unclassified types of pathologies; the
… than 49 years, menopausal women, and women who had experienced vaginal pregnancies. …

Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese …

SP Bhaskaran, T Huang, BK Rajendran… - Journal of medical …, 2021 - jmg.bmj.com
… in Chinese, 19 263 in Korean and 37 432 in Japanese. We extracted all BRCA variants from
… total of 3222 distinct BRCA variants including 518 in Indian, 1524 in Chinese, 581 in Korean …

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

WM Cao, YB Zheng, Y Gao, XW Ding, Y Sun, Y Huang… - BMC cancer, 2019 - Springer
China and observed a 20.2% overall pathogenic variant frequency for BRCA1/2 genes. MLPA
assay on the patients lacking small pathogenic variants … /2 pathogenic variant frequency to …

Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family

A Kwong, LP Wong, KYK Chan, ESK Ma, US Khoo… - Familial cancer, 2008 - Springer
… Southern Chinese population were based on women with … only in Southern Chinese population
and not Northern Chinese … the Northern and Southern Chinese populations [44]. Hence, …