ArticleCommunications biology2020
Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
Article in Communications biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Comparative analysis of distinct genomic landscapes in young-onset gBRCA1/2 breast cancer.JCI insight · 2026Article
- Altered Estrogen Receptor Signaling Pathway in BRCA2-Deficient Estrogen Receptor-Positive/HER2-Negative Breast Cancer.Cancer reports (Hoboken, N.J.) · 2026Article
- Mutational profiles of spontaneous and radiation-related mammary carcinomas in a rat model of Brca1 haploinsufficiency.Scientific reports · 2026Article
- A pro-carcinogenic oral microbe internalized by breast cancer cells promotes mammary tumorigenesis.Cell communication and signaling : CCS · 2026Article
- Article
- A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.Genome medicine · 2025Review
- Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.Scientific reports · 2025Article
- Personalized medicine in triple-negative breast cancer: combining neoantigen vaccination and genomic profiling in a patient undergoing neoadjuvant chemotherapy.Frontiers in oncology · 2025Article
- Genomic and transcriptomic profiling of pre- and postneoadjuvant chemotherapy triple negative breast cancer tumors.Cancer science · 2024Article
- Article
- Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond.DNA repair · 2023Review
- Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.International journal of molecular sciences · 2023Article
- Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.BJUI compass · 2023Review
- Environmental impact on carcinogenesis under BRCA1 haploinsufficiency.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2023Review
- Brca1Cancer science · 2022Article
- Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.Breast cancer research and treatment · 2022Article
- Identification of Shared Neoantigens inVaccines · 2022Article
- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.Diagnostics (Basel, Switzerland) · 2022Article
- BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance.Redox biology · 2022Article
- Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.Cancer science · 2022Article
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Authors and funding
31 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic and clinical characteristics of breast tumors with germline variants, including their association with biallelic inactivation through loss-of-heterozygosity (LOH) and second somatic mutations, remain elusive. We analyzed germline variants of 11 breast cancer susceptibility genes for 1,995 Japanese breast cancer patients, and identified 101 (5.1%) pathogenic variants, including 62 BRCA2 and 15 BRCA1 mutations. Genetic analysis of 64 BRCA1/2-mutated tumors including TCGA dataset tumors, revealed an association of biallelic inactivation with more extensive deletions, copy neutral LOH, gain with LOH and younger onset. Strikingly, TP53 and RB1 mutations were frequently observed in BRCA1- (94%) and BRCA2- (9.7%) mutated tumors with biallelic inactivation. Inactivation of TP53 and RB1 together with BRCA1 and BRCA2, respectively, involved LOH of chromosomes 17 and 13. Notably, BRCA1/2 tumors without biallelic inactivation were indistinguishable from those without germline variants. Our study highlights the heterogeneity and unique clonal selection pattern in breast cancers with germline variants.
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