ArticleCancer medicine2019
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Article in Cancer medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.Cancers · 2024Article
- Article
- Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.BMC cancer · 2022Article
- Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.Cancer science · 2022Article
- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- Variants in PRKCE and KLC1, Potential Regulators of Type I Psoriasis.Clinical, cosmetic and investigational dermatology · 2022Article
- Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.Frontiers in oncology · 2022Article
- Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genesFrontiers in oncology · 2021Article
- Association Between Single-Nucleotide Polymorphisms in Breast Cancer Susceptibility Genes and Clinicopathological Characteristics.Clinical epidemiology · 2021Article
- Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.Frontiers in oncology · 2021Review
- Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.Annals of translational medicine · 2020Article
- Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.Cancer science · 2020Article
- Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer.International journal of molecular sciences · 2020Article
- Article
- Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population.Molecular genetics & genomic medicine · 2020Article
- Germline and SomaticFrontiers in oncology · 2020Article
- Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.Cancer medicine · 2019Article
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Authors and funding
20 authors at 16 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing for germline mutations in BRCA1/2 of patients with breast cancer (BC) is part of routine patient care. However, BRCA1/2 mutations account only for a fraction of familial BC. A custom panel of 22 gene sequencing was performed on each patient. Among the 481 female patients, 135 patients were detected to carry pathogenic (P)/likely pathogenic (LP) mutations (28.1%), which corresponded to 12 different cancer predisposition genes [14.6% (70/481) on BRCA1 gene, 5.0% (24/481) on BRCA2 gene, 8.5% (41/481) on non-BRCA1/2 genes]. Moreover, 24.7% (119/481) of patients had mutation of unknown significance (VUS) in these genes. The most common (8/481) pathogenic mutation is BRCA1 c.5470_5477del, while BRIP1 2392 C > T of patients was detected. All the mutations detected were mainly seen in the homologous recombinant repair pathway. Compared to BRCA2 mutation, BRCA1 mutation is higher in younger female patients (P < 0.01). Some pathogenic mutations were detected in the patients' familiy members without the past history of tumor and 92 novel mutations were detected (31 on BRCA including 2 P, 16 LP, 13 VUS; 61 on non-BRCA1/2 including 9 LP, 52 VUS). The detection rate of BRCA1/2 mutations was higher in patients with three or more cancer family members than those with one or two. However, the difference was not statistically different. The results suggest that multigene panel testing can increase mutation detection rate for high-risk BC patients. Detailed family history can help to categorize new mutations.
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