Associated Papers
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations
Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.
Lila K et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
39733403 (PubMed )
Supplement: APJCP-25-4145-s001.xlsx › Supplementry_Table_1
The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.
John AO et al.
European Journal of Human Genetics : Ejhg, 2024
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy.
Khandakji M et al.
Physiological Genomics, 2023
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 › BRCA1
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_S15
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
Loke J et al.
Hgg Advances, 2022
35146455 (PubMed )
Supplement: mmc1.pdf
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
Akter H et al.
Bmc Medical Genetics, 2019
Select a paper to view details