ArticleHuman molecular genetics2014
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
76 citing papers in PubMed, 3 syntheses or guidelines pooled it, 138 citations in OpenAlex.
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.International journal of cancer · 2022Pooled it
- Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.Carcinogenesis · 2015Pooled it
- Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- Personalized Decision-Making in Risk-Reducing Surgery of the Ovaries.JAMA network open · 2026Article
- Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.European journal of human genetics : EJHG · 2025Article
- Article
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
- Basic knowledge for counseling patients undergoing risk-reducing salpingo-oophorectomy.Obstetrics & gynecology science · 2024Article
- Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.American journal of human genetics · 2024Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.BMC cancer · 2024Article
- Targeted inhibition of the ATR/CHK1 pathway overcomes resistance to olaparib and dysregulates DNA damage response protein expression in BRCA2Scientific reports · 2023Article
- Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Review
- Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.British journal of cancer · 2023Article
- Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.Scientific reports · 2023Article
- Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan.Journal of ovarian research · 2023Article
- DNA Damage Response Alterations in Ovarian Cancer: From Molecular Mechanisms to Therapeutic Opportunities.Cancers · 2023Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive EOC cases and 1535 controls. Barcoded fragment libraries were sequenced using the Illumina GAII or HiSeq and sequence data for each subject de-multiplexed prior to interpretation. GATK and Annovar were used for variant detection and annotation. After quality control 2222 cases (99.2%) and 1528 controls (99.5%) were included in the final analysis. We identified 193 EOC cases (8.7%) carrying a deleterious mutation in at least one gene compared with 10 controls (0.65%). Mutations were most frequent in BRCA1 and BRCA2, with 84 EOC cases (3.8%) carrying a BRCA1 mutation and 94 EOC cases (4.2%) carrying a BRCA2 mutation. The combined BRCA1 and BRCA2 mutation prevalence was 11% in high-grade serous disease. Seventeen EOC cases carried a mutation in a mismatch repair gene, including 10 MSH6 mutation carriers (0.45%) and 4 MSH2 mutation carriers (0.18%). At least 1 in 10 women with high-grade serous EOC has a BRCA1 or BRCA2 mutation. The development of next generation sequencing technologies enables rapid mutation screening for multiple susceptibility genes at once, suggesting that routine clinical testing of all incidence cases should be considered.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.