Associated Papers
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
38368609 (PubMed )
Supplement: NIHMS1970903-supplement-3.xlsx › Table_S2
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
34906453 (PubMed )
Supplement: mmc1.xlsx › Sup_Table_3_Variantdata
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
Sharma-Oates A et al.
Precision Clinical Medicine, 2018
35693198 (PubMed )
Supplement: pby010_supplementarytables1_2_v2.xlsx › Sheet1
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.
Saxena S et al.
Bmc Medical Genetics, 2006
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