Author Interviews, Biomarkers, Breast Cancer, Cancer Research / 14.01.2017
Gene Variant That Controls Tumor Metabolism Linked To Breast Cancer Risk
MedicalResearch.com 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
MedicalResearch.com: 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.
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