ArticleMolecular genetics & genomic medicine2015
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 82 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.Scientific reports · 2016Pooled it
- MMP8 and MMP9 gene polymorphisms were associated with breast cancer risk in a Chinese Han population.Scientific reports · 2018Trial
- Linkage Between miR-218-2 (rs11134527) Genetic Polymorphism and Breast Cancer Risk: A Case-Control Study in the Bangladeshi Women.Health science reports · 2026Article
- "Methodological Constraints and Interpretive Overreach in ESR1-Breast Cancer Association Studies: A Critical Appraisal".Health science reports · 2026Article
- Genotype and Haplotype Analysis BetweenHealth science reports · 2025Article
- A Case-Control Study on the Association BetweenHealth science reports · 2025Article
- Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.Genome medicine · 2025Article
- Benchmarking large language models GPT-4o, llama 3.1, and qwen 2.5 for cancer genetic variant classification.NPJ precision oncology · 2025Article
- Prostate cancer genotyping for risk stratification and precision treatment.Current urology · 2024Review
- Paraganglioma with High Levels of Dopamine, Dopa Decarboxylase Suppression, Dopamine β-hydroxylase Upregulation and Intra-tumoral Melanin Accumulation: A Case Report with a Literature Review.Internal medicine (Tokyo, Japan) · 2023Review
- Validity of pathological diagnosis for early colorectal cancer in genetic background.Cancer medicine · 2023Article
- Detection of IL-1β, VEGF and IL-4 with their novel genetic variations in breast cancer patients.Saudi journal of biological sciences · 2023Article
- Estrogen Receptor Gene Polymorphism as a Possible Genetic Risk Factor for Treatment Response in ER-Positive Breast Cancer Patients.Biochemical genetics · 2022Article
- Simple IHC reveals complex MMR alternations than PCR assays: Validation by LCM and next-generation sequencing.Cancer medicine · 2022Article
- Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.Journal of cancer research and clinical oncology · 2021Article
- Genetic profiles of Barrett's esophagus and esophageal adenocarcinoma in Japanese patients.Scientific reports · 2021Article
- A multidisciplinary approach remains the best strategy to improve and strengthen the management of ovarian cancer (Review).International journal of oncology · 2021Review
- Comprehensive mutational analysis of background mucosa in patients with Lugol-voiding lesions.Cancer medicine · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 5-10% of all breast and/or ovarian cancer cases are considered as inherited. BRCA1 and BRCA2 tumor suppressor genes account for a high penetrance of hereditary cases, but familial cases without mutations in these genes can also occur. Despite their low penetrance, other hereditary cancer-related genes are known to be associated with breast and ovarian cancer risk. However, the extent to which these genes prevail in breast and ovarian cancer remains to be elucidated. To estimate the frequency of mutations in these predisposition genes, we analyzed the germline mutations of 25 hereditary cancer-related genes in 155 patients using targeted next-generation sequencing. These subjects included 11 BRCA1/2 mutation-positive cases and 144 negative cases. Of these, three patients (1.9%) had pathogenic mutations in ATM, MRE11A, or MSH6, all of which have a central role in DNA repair and the mismatch repair pathway. The MSH6 splice-site mutation (IVS6+1G>T) was predicted to be pathogenic, as demonstrated by in vitro and immunohistochemical analyses. These results suggested deficiencies in cellular DNA repair functions result in the development of breast and ovarian cancer.
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