Gene Variant That Controls Tumor Metabolism Linked To Breast Cancer Risk Interview with:

Ulrich Pfeffer, PhD Head of the Functional Genomics lab IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro Genova, Italy

Dr. Ulrich Pfeffer

Ulrich Pfeffer, PhD
Head of the Functional Genomics lab

IRCCS AOU San Martino – IST Istituto Nazionale per la Ricerca sul Cancro
Genova, Italy What is the background for this study? What are the main findings?

Response: In recent years our knowledge on genetic variants that are associated with the risk to develop breast cancer has grown substantially. In addition to the two breast cancer genes, BRCA1 and BRCA2 we know approximately 100 other genes that are present in the population in two variants. In the presence of a single of these variants the breast cancer risk is slightly increased and several variants together determine a significant increase in risk. We also know that certain variants are associated with specific subtypes of breast cancer such as the estrogen receptor positive breast cancer.

We show in our work for the first time that some of these variants are more frequent in breast cancers that carry a specific somatic, non-inherited, mutation. In particular, we show this for the most frequent somatic mutation in breast cancer, PIK3CA, a gene involved in the control of tumor metabolism and many other aspects, a fundamental gene. The knowledge of this association tells us a lot on cancer biology. But most important, it might help to design specific prevention strategies. Since when you carry a germline allele that is associated with a specific somatic mutation you know your risk of a specific molecular type of breast cancer and eventually you can do something specific to prevent it. What should readers take away from your report?

Response: Mutations that “cause” cancer are never sufficient to really determine the development of a cancer. Many other factors play a role, life style and diet for example but also your genetics. The association of specific genetic variants with molecular subtypes of cancer helps to explain how cancers develop and, perhaps, how they can be prevented. What recommendations do you have for future research as a result of this study?

Response: We have done this analysis for breast cancer only and for only three genes that are frequently mutated. Much more can be done with larger sample collections that have been analyzed in depth. These collections are yet to come but it is conceivable that in the next decade most of these associations will become known for most cancers. This is just the start of a new research field. Is there anything else you would like to add? Any disclosures?

Response: Nothing to disclose, this is pure basic research. I would like to add that “targeted prevention” is a major interest of mine. I believe that you can do much to prevent cancer once you know how the cancer works, what your specific risk factors are and how the cancer interacts with your genes. And prevention prolongs healthy life, life before not life with cancer.

SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers
Roberto Puzone and Ulrich Pfeffer
European Journal of Human Genetics , (28 December 2016) | doi:10.1038/ejhg.2016.179

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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