Author Interviews, Breast Cancer, Genetic Research, JAMA, Race/Ethnic Diversity / 22.01.2021

MedicalResearch.com Interview with: Kent Hoskins, MD Eileen Lindsay Heidrick Professor in Oncology Division of Hematology/Oncology University of Illinois at Chicago Director of Cancer Genetics Co-Leader, Breast Cancer Research Group University of Illinois Cancer Center MedicalResearch.com: What is the background for this study? Response: The racial disparity in breast cancer mortality emerged in the US in the late 1980s in the wake of widespread implementation of mammography screening and the development of successful systemic adjuvant therapies for early breast cancer. Unfortunately, more than three decades later, Black women in the US still have a 40% higher mortality rate from breast cancer compared with non-Hispanic White women despite similar disease incidence. Health disparities research has primarily focused on the fact that Black women have a higher incidence of the aggressive triple-negative subtype, and that they are more likely to present with more advanced stages of disease. As important as those factors are, in recent years our group and others reported that Black women with hormone receptor-positive breast cancer have worse survival than non-Hispanic white women even after adjustment for stage at diagnosis and treatment. Since nearly 2/3 of breast cancers in Black women are hormone receptor-positive, this is a significant contributor to the overall mortality disparity. Importantly, these studies also suggested that Black women disproportionately develop biologically aggressive forms of hormone-dependent breast cancer, which is typically considered a more favorable disease subtype. Using data on more than 70,000 patients from the SEER registry that is linked to data from Genomic Health Laboratory, which provides the Oncotype DX recurrence score (the most commonly ordered prognostic/predictive multi-gene expression assay for early breast cancer), we set out to address three questions: 1) is there evidence of disproportionately aggressive tumor biology among Black women with hormone receptor (HR)-positive breast cancer, as reflected in the Oncotype DX recurrence score? 2) Is there a racial survival disparity even among patients with early stage, axillary node-negative tumors with comparable recurrence scores on the Oncotype assay? and 3) Is there is a difference in the prognostic accuracy of the Oncotype assay between Black and non-Hispanic white patients, since there was limited representation of Black women in the development and validation of the Oncotype assay and other prognostic/predictive assays?  (more…)
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.  (more…)
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. (more…)