ArticleBreast cancer research and treatment2020
Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
Article in Breast cancer research and treatment, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.BMC research notes · 2026Article
- GermlineJournal of personalized medicine · 2024Article
- Core promoter in TNBC is highly mutated with rich ethnic signature.Briefings in functional genomics · 2023Article
- Etiological roles of core promoter variation in triple-negative breast cancer.Genes & diseases · 2023Article
- Analysis of Breast Cancer Differences between China and Western Countries Based on Radiogenomics.Genes · 2022Article
- Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.Journal of medical genetics · 2022Article
- Evaluating breast cancer predisposition genes in women of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.Scientific reports · 2022Article
- Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.Human genetics · 2021Article
- Article
- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.Frontiers in genetics · 2021Article
- Review
- Literature Review ofGenes · 2020Review
- Germline mutations in 5' to c.7914 ofAsian journal of andrologyArticle
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeLimited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data in a population-based case-control study conducted in Shanghai, China.
methodsWe evaluated exonic, splicing, and copy number variants in 11 established and 14 candidate breast cancer predisposition genes in 831 invasive breast cancer cases and 839 controls. We identified 55 pathogenic variants, including 15 newly identified in this study.
resultsApproximately 8% of the cases and 0.6% of the cancer-free controls carried these pathogenetic variants (P = 3.05 × 10
conclusionsThis study highlighted the importance of hereditary breast cancer genes in the breast cancer etiology in this understudied population. Together with previous studies in East Asian women, this study suggested a relatively more prominent role of BRCA2 compared to BRCA1. This study also provides additional evidence to design cost-efficient genetic testing among Chinese women for risk assessment and early detection of breast cancer.
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