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
Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma.
de Ávila AL et al.
Familial Cancer, 2014
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
Kerr SE et al.
The Journal of Molecular Diagnostics : Jmd, 2013
The use of hierarchical models for estimating relative risks of individual genetic variants: an application to a study of melanoma.
Capanu M et al.
Statistics in Medicine, 2008
Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.
Yakobson E et al.
European Journal of Human Genetics : Ejhg, 2000
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