Increased risk of pancreatic cancer in melanoma-prone kindreds with p16(INK4) mutations

Article Abstract:

The risk of pancreatic cancer may be higher in people with a mutation of the p16(INK4) gene that inhibits the function of the corresponding protein than in people with a mutation that does not effect this protein's function. Mutations of the p16(INK4) gene have been found in 19 families in which melanoma is more common than usual. Using medical records and physical exams, researchers compared two groups of these families: 10 families with p16M mutations that effected protein function and 9 families with p16W mutations that did not effect protein function. The two groups of families had similar melanoma incidence, severity, and age of diagnosis. However, the risk of pancreatic cancer was 13 times higher in the families with affected protein function than in the families with unaffected protein function.

Author: Struewing, Jeffery P., Tucker, Margaret A., Dracopoli, Nicholas C., Fraser, Mary C., Goldstein, Alisa M., Hussussian, Christopher J., Ranade, Koustubh, Zametkin, Deborah P., Fontaine, Laura S., Organic, Sara M., Clark, Wallace H.
Physiological aspects, Pancreatic cancer, Mutation (Biology), Mutation

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CDKN2A mutations in multiple primary melanomas

Article Abstract:

Melanoma patients who have more than one tumor may have a gene mutation even though they have no family history of the disease. Researchers performed genetic analysis on 33 melanoma patients with multiple tumors but no confirmed family history. Five had a mutation in the CDKN2A tumor suppressor gene. In three families, other family members were also found to have the mutation. In two of these families, a family history of melanoma was revealed for the first time. About 20% of families with a history of melanoma have a CDKN2A mutation.

Author: McLaughlin, John J., Tucker, Margaret A., Goldstein, Alisa M., Hogg, David, Monzon, Jose, Liu, Ling, Brill, Herbert, From, Lynn, Lassam, Norman J.
Health aspects, Gene mutations, Gene mutation, Tumor suppressor genes

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Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p

Article Abstract:

The gene responsible for cutaneous malignant melanoma-dysplastic nevus was discovered to reside on the distal area of the short arm of chromosome 1. Families with a tendency toward melanoma were studied. Thirty-four fmaily members had malignant melanoma. Thirty-one of the thirty-four also had dysplasticnevi and twenty-four had dysplastic nevi alone. It is suggested that the isolation of the gene will help to elucidate the courses of familial melanoma.

Author: Tucker, Margaret A., Housman, David E., Bale, Sherri J., Dracopoli, Nicholas C., Clark, Wallace H., Jr., Fraser, Mary C., Stanger, Ben Z., Green, Philip, Donis-Keller, Helen, Greene, Mark H.
Methods, Case studies, Chromosome mapping, Linkage (Genetics)

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Subjects list: Genetic aspects, Melanoma
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