Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer
Jennifer Berkman1,2, Ellie J Maas1, E DeBortoli1
1Frazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
Abstract:
This study reports co-segregation of a pathogenic CDKN2A variant with both melanoma and breast cancer in a four-generation pedigree. Eighteen individuals were test positive (n = 10), obligate (n = 5) or assumed carriers (n = 3) of the CDKN2A variant. Eleven of these had multiple melanomas, with initial diagnoses from teens to fifties. Six of thirteen female carriers had breast cancer (n = 5 test positive, n = 1 assumed carrier), with diagnoses ranging from thirties to sixties. Additional cancer diagnoses included pancreatic, and head and neck cancers. This study illustrates a possible genotype-phenotype association between a pathogenic CDKN2A variant and the co-occurrence of melanoma and breast cancer in a hereditary context.
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