Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

BACKGROUND: Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP variants in the 24 ACMG SF v2.0 c...

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Autores principales: Kim, Jung, Luo, Wen, Wang, Mingyi, Wegman-Ostrosky, Talia, Frone, Megan N., Johnston, Jennifer J., Nickerson, Michael L., Rotunno, Melissa, Li, Shengchao A., Achatz, Maria I., Brodie, Seth A., Dean, Michael, de Andrade, Kelvin C., Fortes, Fernanda P., Gianferante, Matthew, Khincha, Payal, McMaster, Mary L., McReynolds, Lisa J., Pemov, Alexander, Pinheiro, Maisa, Santiago, Karina M., Alter, Blanche P., Caporaso, Neil E., Gadalla, Shahinaz M., Goldin, Lynn R., Greene, Mark H., Loud, Jennifer, Yang, Xiaohong R., Freedman, Neal D., Gapstur, Susan M., Gaudet, Mia M., Calista, Donato, Ghiorzo, Paola, Fargnoli, Maria Concetta, Nagore, Eduardo, Peris, Ketty, Puig, Susana, Landi, Maria Teresa, Hicks, Belynda, Zhu, Bin, Liu, Jia, Sampson, Joshua N., Chanock, Stephen J., Mirabello, Lisa J., Morton, Lindsay M., Biesecker, Leslie G., Tucker, Margaret A., Savage, Sharon A., Goldstein, Alisa M., Stewart, Douglas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305568/
https://www.ncbi.nlm.nih.gov/pubmed/30583724
http://dx.doi.org/10.1186/s13073-018-0607-5

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