Author Interviews, Biomarkers, Breast Cancer, Cancer Research, Genetic Research / 26.02.2018

MedicalResearch.com Interview with: Maureen E. Murphy, Ph.D. Program Leader and Professor Molecular and Cellular Oncogenesis and Subhasree Basu PhD Postdoctoral researcher The Wistar Institute Philadelphia, PA 19104 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Unlike most other genes that are intimately involved in the cause of cancer, the p53 gene displays considerable genetic variation; in other words, p53 is unusual among cancer genes in that the amino acids in p53 protein can frequently differ amongst different populations and ethnic groups. Additionally, unlike most other tumor suppressor genes, when p53 is mutated in a tumor, as it is in 50% of human cancers, that mutant protein now has a positive function in cancer progression, changing tumor metabolism and promoting tumor metastasis. In this study, the authors analyze for the first time the impact of a common genetic variant in p53 (single nucleotide polymorphism, or SNP) in the ability of mutant p53 to promote tumor metabolism and metastasis, and they find significant differences. 
Author Interviews, Cancer Research, Genetic Research, Journal Clinical Oncology / 20.04.2014

MedicalResearch.com Interview with: Allison W. Kurian, M.D., M.Sc. Assistant Professor of Medicine and of Health Research and Policy Divisions of Oncology and Epidemiology Allison W. Kurian, M.D., M.Sc. Assistant Professor of Medicine and of Health Research and Policy Divisions of Oncology and Epidemiology and James M. Ford, MD Associate Professor of Medicine Pediatrics and Genetics, Division of Oncology, Stanford University School of MedicineJames M. Ford, MD Associate Professor of Medicine Pediatrics and Genetics, Division of Oncology, Stanford University School of Medicine MedicalResearch.com: What are the main findings of the study? Answer: We found that 11% of women who met standard clinical criteria for BRCA1 and BRCA2 (BRCA1/2) mutation testing, yet had tested negative, actually carried an actionable mutation in another cancer-related gene.  We found that patients were highly motivated to learn about their genetic test results and new recommendations for cancer risk reduction.  Over a short follow-up period, colonoscopy screening resulted in early detection of a tubular adenoma in a patient found to have a high-risk MLH1 mutation, and thus the multiple-gene testing in our study has likely prevented at least one cancer to date.  We conclude that multiple-gene sequencing can benefit appropriately selected patients.