Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
A pan-cancer analysis of synonymous mutations.
Sharma Y et al.
Nature Communications, 2019
31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited
Select a paper to view details