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_MOESM2_ESM.xlsx › SupplementaryTable2
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › TCGA_n_569_
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2
Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.
Anquetil A et al.
Clinical Case Reports, 2021
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
Diop JPD et al.
Bmc Medical Genetics, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
Hahnen E et al.
Jama Oncology, 2017
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan P et al.
Science Translational Medicine, 2016
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
Whitworth J et al.
Jama Oncology, 2016
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.
Novaković S et al.
International Journal of Oncology, 2012
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