Rare Disease Report

A Family Affair: Multiplex Germline Testing in Melanoma

JUNE 04, 2018
Rare Disease Report® Editorial Staff


At the American Society of Clinical Oncology (ASCO) 2018 annual meeting in Chicago, Pauline Funchain MD, associate staff member in the Taussig Cancer Institute at the Cleveland Clinic, explained her research, which assessed possible underlying genetic and familial factors in melanomas.

Dr Funchain: We essentially did a study on familial melanoma. The whole idea came about because, coming from the side of genetics, when you’re in an oncology clinic and see melanoma patients, there were more melanomas than we would have expected, more melanomas in the family, more other cancers in the family.

[Because we were seeing that], we ended up testing 81 patients and doing germline multiplex testing (doing multiple genes and testing them in the germline). The patients we tested were somewhat selected; [study inclusion criteria] was either 2 melanomas in a person or a family, a melanoma and other cancers in the family, or young in age. [We found that] in that group of patients, 18.5%, 1 out of 5, carried some kind of hereditary predisposition to cancer.

For us, it’s turning around how we think about melanoma. We as a field thought melanoma is [caused by] sun exposure, and we didn’t think about whether it was inherited or not. [However], this study shows us that there is heritability in melanoma; melanoma may signal some predisposition in the family. [Also], there are actually not just genes that are associated with melanoma, but genes that we didn’t know were associated with melanoma that were found in this group. There’s a lot more to come to figure out the full breadth of melanoma, families, and cancer.   

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