Work

Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants

Year: 2022

Type: article

Abstract: Germline genetic variants in genes including CDKN2A, MITF, POT1, and BRCA1/2 predispose to the development of melanoma and other cancers.1 Pathogenic variants in CDKN2A specifically increase the risk for melanoma and pancreatic cancer.2,3 Hereditary breast and ovarian cancer syndrome, caused by pathogenic variants in BRCA1/2, is most strongly associated with breast and ovarian cancer, but in the case of BRCA2, also increases the risk for melanoma.4 In patients with melanoma, taking a careful family history is essential to guide consideration of germline genetic testing.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2022.10.034

Authors: Nicole Trupiano, Erika Koeppe, Michelle F. Jacobs, Tobias Else, Kelly B. Cha

Institutions: University of Michigan, Michigan Medicine

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $675