Associated Papers
The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.
Assaf N et al.
Cancer Management and Research, 2025
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
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
37578980 (PubMed )
Supplement: pgen.1010739.s005.xlsx › Sheet1
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-s002.xlsx › BRCA1
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
A new bioinformatics tool to help assess the significance of BRCA1 variants.
Cusin I et al.
Human Genomics, 2018
Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
Apessos A et al.
Cancer Genetics, 2018
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren RD et al.
Human Mutation, 2017
27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable2
Epigenetic repression of phosphatidylethanolamine N-methyltransferase (PEMT) in BRCA1-mutated breast cancer.
Li D et al.
Oncotarget, 2014
24675476 (PubMed )
Supplement: oncotarget-05-1315-s002.pdf
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.
Katagiri T et al.
Journal of Human Genetics, 1998
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