It’s all in the genes

While the majority of cancers are not hereditary, some do occur multiple times within the same family. A well-known example of this is breast cancer, where mutations in the BRCA genes (BRCA1/BRCA2) predispose to breast cancer, with notable patients including Angelina Jolie. Melanoma, too, can sometimes be passed from parents to their children. 5 to 12% of melanoma cases have been found in families where there are three or more members with a diagnosis of the disease. We call this “familial melanoma”. These cases occur when there is an inherited genetic mutation, which makes carriers more susceptible to developing melanoma, with the mutation passed down through the generations and with it melanoma. In around 50% of cases, the genetic mutations that are associated with melanoma development has been determined. The majority of these cases are caused by small changes in the DNA sequence of the gene CDKN2A, also known as the Cyclin-Dependent Kinase Inhibitor 2A.

The natural follow-up question is “What about the other 50%?”

This is the question I aim to answer during my PhD at the Wellcome Trust Sanger Institute in Cambridge. By performing whole-genome analysis on several melanoma patients belonging to familial melanoma families, and comparing the genetic code of these individuals to a general population, I hope to determine additional genes responsible for melanoma. Over the course of my PhD, I also plan on investigating changes in the DNA of the patients not related to genes (such as their structure, changes in the non-coding regions etc.) to see how they may contribute to the development of melanoma within a family.

I believe that understanding a problem completely is the first step towards solving that problem. By discerning all the mechanisms involved in the creation of cancer, effective treatment techniques targeting these mechanisms may be developed.

– Written by Aravind Sankar, ESR01