Managing Patient with Mutations in PALB2, CHEK2, or ATM

Acevedo, Francisco; Deng, Zhengyi; Armengol, Victor D.; Hughes, Kevin


Purpose of Review The use of panel testing of multiple cancer-causing genes has allowed to find a subset of patients with harmful mutations in moderate penetrance genes. While extensive information is available regarding patients with BRCA1 and BRCA2 pathogenic variants, information regarding these less common genes and their management remains scarce. The aim of this review is to discuss penetrance, incidence, and management recommendations for PALB2, ATM, and CHEK2. Recent Findings NCCN guidelines now provide management recommendation for patients with pathogenic variants in these genes. In addition, more widespread testing has provided more information on penetrance and incidence. Although this is a huge step toward improving quality of care, prospective studies are still needed. We summarize the NCCN and other guidelines/suggestions for these genes and deliver our insight on the matter based on the best information we could find. Summary PALB2, ATM, and CHEK2 are less penetrant than BRCA1-2 and have a different spectrum, suggesting differing management. Data about incidence and penetrance along with management recommendations for these genes are provided.

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Título según WOS: ID WOS:000433209900006 Not found in local WOS DB
Volumen: 10
Número: 2
Editorial: Springer
Fecha de publicación: 2018
Página de inicio: 74
Página final: 82


Notas: ISI