ArticlePloS one2013
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 3 of them syntheses that pooled it.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 3 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.European journal of human genetics : EJHG · 2023Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Targeted Sequencing and Meta-Analysis of Preterm Birth.PloS one · 2016Pooled it
- The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Trial
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.NAR genomics and bioinformatics · 2024Article
- Uncovering hidden genetic risk factors for breast and ovarian cancers in BRCA-negative women: a machine learning approach in the Saudi population.PeerJ. Computer science · 2024Article
- Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.International journal of molecular sciences · 2023Article
- Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.Cancer treatment reviews · 2022Review
- Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.NPJ breast cancer · 2021Article
- Genetic Mutations Associated with Hormone-Positive Breast Cancer in a Small Cohort of Ethiopian Women.Annals of biomedical engineering · 2021Article
- Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.Cancer science · 2021Observational
- FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.Molecular genetics & genomic medicine · 2020Article
- Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.Diagnostics (Basel, Switzerland) · 2020Article
- Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.Cancers · 2020Article
- Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?International journal of molecular sciences · 2020Review
- Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.Frontiers in oncology · 2020Article
- Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets ImplicatesFrontiers in genetics · 2019Article
- Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.Journal of translational medicine · 2018Article
- Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.Frontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
28 authors at 13 institutions in 6 countries.
Funding
Abstract
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases. In the present study we used massively parallel sequencing to analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women with breast cancer (between 6 and 10) diagnosed under the age of 60 across generations. After extensive filtering, Sanger sequencing validation and co-segregation studies, variants were prioritized through either control-population studies, including up to 750 healthy individuals, or case-control assays comprising approximately 5300 samples. As a result, a known moderate susceptibility indel variant (CHEK2 1100delC) and a catalogue of 11 rare variants presenting signs of association with breast cancer were identified. All the affected genes are involved in important cellular mechanisms like DNA repair, cell proliferation and survival or cell cycle regulation. This study highlights the need to investigate the role of rare variants in familial cancer development by means of novel high throughput analysis strategies optimized for genetically heterogeneous scenarios. Even considering the intrinsic limitations of exome resequencing studies, our findings support the hypothesis that the majority of non-BRCA1/BRCA2 breast cancer families might be explained by the action of moderate and/or low penetrance susceptibility alleles.
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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.