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BCRF Grantee Since

2013

Donor Recognition

The J.C. Penney Award

Area(s) of Focus

Jeffrey N. Weitzel, MD

Director and Professor
Division of Clinical Cancer Genetics
Department of Population Sciences
Beckman Research Institute, City of Hope
Duarte, California

Current Research

Angelina Jolie has refocused attention on hereditary breast cancer risk and difficult choices to prevent the disease, 17 years after commercial BRCA testing became available in the US. However, access to BRCA gene testing and genetic counseling—long a standard of care in most developed countries—is not available in the majority of Latin America and Mexico. Dr. Weitzel’s preliminary studies of 746 Hispanics in the US documented BRCA mutations in 189 women (25%). The pattern of mutations was not random. Rather, many mutations were recurrent, as in seen in multiple unrelated families. Most of these mutations appear to have originated in Spain, and likely reflect Spanish Colonial influence and spread to Latin America ~500 years ago. However, one of the mutations, BRCA1 ex9-12del (a large rearrangement mutation in BRCA1 that is not detectable by conventional sequencing tests) appears to be a Mexican founder mutation, and represents 10-12% of all BRCA1 mutations in Mexican Americans in the U.S.

With BCRF support in 2013-2014, Dr. Weitzel’s team will test a novel economical genomic panel assay (HISPANEL) that has been able to detect nearly 80% of BRCA mutations in U.S. Hispanics for a very low cost (~$25/case), among high risk breast cancer patients in Latin America. They will also train doctors and nurses how to provide genetic counseling and genetic testing in Peru, Colombia, and Mexico. Thus, in this international project, Dr. Weitzel will try to make important observations about BRCA mutations among Latin American women, while helping the respective countries create an infrastructure of genetic counseling clinicians, and develop and test low cost genetic testing tools to apply in their home countries. Accomplishing these objectives will enable identification of women at highest risk for breast cancer, so that limited clinical resources can be focused where they are needed the most to detect and detect breast cancer earlier, and to prevent the disease.

Mid-Year Summary

With BCRF funding, Dr. Weitzel’s first aim is to estimate the sensitivity of an economical panel of recurrent Hispanic-specific BRCA mutations (HISPANEL) in Latin America among women with ovarian cancer or early onset breast cancer. His team completed HISPANEL screening on a previously gathered sample of 266 Peruvian breast cancer cases and found 13 (4.9%) BRCA mutations. They have also recruited 21 individuals for study from Peru since study activation in October. They completed HISPANEL screening on a previously gathered sample of 244 Colombian breast cancer cases and found 3 BRCA mutations. Their second aim is to implement an established research registry and genetic counseling services in collaborating medical centers in Latin America with a focus for this project on Peru and Colombia, using the HISPANEL as an economic genetic screening tool for high risk patients, to improve cancer prevention, earlier patient diagnosis and risk-appropriate management. The registry protocol has now been approved by the local Institutional Review Boards in Bogota, Colombia, in Lima, Peru, and in Mexico City, Mexico. The University of Guadalajara activated the protocol in 2013. Dr. Weitzel in October to Bogota, Colombia to assist with acceleration of the study there. Orientation to conducting the study and collecting the data and biospecimens has been completed at three of these sites, and is ongoing at the site in Bogota. Accrual has begun in Lima, Peru and Mexico City, and is ongoing at Guadalajara. Clinicians for the study teams from each site have been identified and enrolled in the 90-hour Intensive Course in Cancer Genetics at City of Hope (training commenced in November, and they will be on site at City of Hope in February).

Bio

Dr. Jeffrey N. Weitzel is Chief of the Division of Clinical Cancer Genetics and the Cancer Screening & Prevention Program at the City of Hope Comprehensive Cancer Center. He received his medical degree from the University of Minnesota, is Board Certified in clinical genetics and medical oncology, and is a Professor of Oncology and Population Sciences at the City of Hope and a Clinical Professor of Preventive Medicine at the University of Southern California School of Medicine. At the vanguard of personalized medicine, Dr. Weitzel’s multidisciplinary clinical, research, and training programs emphasize translational research in genetic cancer risk assessment, chemoprevention, targeted therapy, clinical and psychosocial outcomes, genetic epidemiology and health services research in underserved minorities, and hereditary cancer in Latin America. He is a member of the American Society of Clinical Oncology and the National Comprehensive Cancer Network Genetics/Familial Risk Assessment practice guidelines committee. Dr. Weitzel is the principal investigator for the City of Hope Cancer Genetics Education Program and for the Clinical Cancer Genetics Community Research Network, which are funded by the National Cancer Institute.