What is Going On With the Gene CDKN2A?!

Can skin cancer and pancreatic cancer be connected? There are two genes to date that link familial melanoma, CDKN2A and CDK4. 

http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(04)01469-X/fulltext?version=printerFriendly

There is a genetic mutation in the gene CDKN2A (or P16). People who have this mutation are at a high risk for developing cancer. This certain genetic topic hits hard for me personally because my grandfather had malignant invasive melanoma and then ten years later was diagnosed with pancreatic cancer and not even a year later was deceased. My mother was diagnosed with invasive malignant melanoma as well about a month ago and her oncologist is sending her for genetic testing to test her for the mutation. There is a link between this P16 gene and pancreatic cancer. I believe this is a very serious and scary problem that tumors are arising in the pancreas with the CDKN2A mutation. Families from different origins and geographical areas have been, and are currently being tested.

https://www.melanoma.org/find-support/patient-community/mpip-melanoma-patients-information-page/pancreatic-cancer-and

http://www.cancer.net/cancer-types/familial-malignant-melanoma

https://www.omim.org/entry/606719

New Gene Variant Seems to Double Risk of Familial Melanoma

Researchers have identified a new gene variant that seems to double the background risk of familial melanoma. This mutation results in a change in the amino acid sequence of microphthalmia-associate transcription factor, or MITF for short. This same protein has already been known to be over-expressed or otherwise mutated in melanoma tumors. This change in the amino acid sequence gives rise to the increase transcription of certain genes. Wide genomic studies of melanoma have resulted in the discovery of two genes linked to familial melanoma, CDKN2A and CDK4. However, additional studies have led researchers to identify another gene related to melanoma and other skin related diseases: MITF E318K. This gene has been shown to be linked with the increased expression of pigmentation genes, but it is not completely clear yet whether or not this increased pigmentation is a result of the MITF E318K or simply of the increased MITF activity itself. The increased risk of melanoma in regards to the MITF variant has been compared to that of a severe sunburn.

http://www.genengnews.com/gen-news-highlights/scientists-identify-gene-variant-that-doubles-background-risk-of-melanoma/81245947/ (Article Link)