Article
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2022
Horak Peter, Griffith Malachi, Danos Arpad M, Pitel Beth A, Madhavan Subha, Liu Xuelu, Chow Cynthia, Williams Heather, Carmody Leigh, Barrow-Laing Lisa, Rieke Damian, Kreutzfeldt Simon, Stenzinger Albrecht, Tamborero David, Benary Manuela, Rajagopal Padma Sheila, Ida Cristiane M, Lesmana Harry, Satgunaseelan Laveniya, Merker Jason D, Tolstorukov Michael Y, Campregher Paulo Vidal, Warner Jeremy L, Rao Shruti, Natesan Maya, Shen Haolin, Venstrom Jeffrey, Roy Somak, Tao Kayoko, Kanagal-Shamanna Rashmi, Xu Xinjie, Ritter Deborah I, Pagel Kym, Krysiak Kilannin, Dubuc Adrian, Akkari Yassmine M, Li Xuan Shirley, Lee Jennifer, King Ian, Raca Gordana, Wagner Alex H, Li Marylin M, Plon Sharon E, Kulkarni Shashikant, Griffith Obi L, Chakravarty Debyani, Sonkin Dmitriy
Abstract excerpt
PURPOSE: Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. Although these guidelines for the clinical interpretation of variants include data types that may be used to determine the oncogenicity of a variant (eg, population frequency, functional, and in silico data or...
Topics
- Genetic Testing
- Genetic Variation
- Genome, Human
- Genomics