Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
41565638 (PubMed )
Supplement: 41439_2026_335_MOESM3_ESM.xlsx › SupplementaryTable3
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S6B
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification
In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.
Khan MA et al.
Journal of Biomolecular Structure & Dynamics, 2023
36404616 (PubMed )
Supplement: supplement_1.pdf
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Zhang C et al.
Journal of Medical Genetics, 2023
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.
Nacer DF et al.
Genome Medicine, 2023
37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
Tokunaga H et al.
Plos One, 2021
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM12_ESM.xlsx › Sheet1
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
Byers H et al.
European Journal of Human Genetics : Ejhg, 2016
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