ArticleNPJ breast cancer2021
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Article in NPJ breast cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 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
- Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer.NPJ breast cancer · 2026Article
- RecQ DNA helicases germline variants in Lynch-like syndrome.Genetics in medicine open · 2026Article
- Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.Breast cancer research : BCR · 2025Article
- Cohort Profile: Lifepool.International journal of epidemiology · 2025Article
- Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.NPJ genomic medicine · 2025Article
- Bioinformatics analysis identifies WNK1 gene as a potential biomarker for cholangiocarcinoma diagnosis and immune infiltration.Journal, genetic engineering & biotechnology · 2024Article
- Rare Germline Variants in DNA Repair Genes Detected inCancers · 2024Article
- Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.Journal of medical genetics · 2024Article
- Article
- Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.Journal of the National Cancer Institute · 2023Article
- Association between missense variants of uncertain significance in theFrontiers in genetics · 2023Article
- Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.Frontiers in oncology · 2023Article
- Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.NPJ breast cancer · 2022Article
- Association of AXIN2 s2240308 C>T, rs1133683 C>T, rs7224837 A>G Polymorphisms with Susceptibility to Breast Cancer.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.NPJ breast cancer · 2021Article
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-risk BC families. This study aims to investigate the monogenic causes underlying the familial aggregation of BC beyond BRCA1 and BRCA2, including the identification of new predisposing genes. A total of 11,511 non-BRCA familial BC cases and population-matched cancer-free female controls in the BEACCON study were investigated in two sequencing phases: 1303 candidate genes in up to 3892 cases and controls, followed by validation of 145 shortlisted genes in an additional 7619 subjects. The coding regions and exon-intron boundaries of all candidate genes and 14 previously proposed BC genes were sequenced using custom designed sequencing panels. Pedigree and pathology data were analysed to identify genotype-specific associations. The contribution of ATM, PALB2 and CHEK2 to BC predisposition was confirmed, but not RAD50 and NBN. An overall excess of loss-of-function (LoF) (OR 1.27, p = 9.05 × 10
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