E50801 - Hematology and Oncology

Mentor:  Dr. Phillip Buckhaults, Associate Professor, Department of Medicine, Division of Hematology & Oncology, The University of Alabama at Birmingham, 1824 6th Avenue South, WTI 510D, Birmingham, AL 35294-3300. Telephone:  (205) 975-3960; Email: This email address is being protected from spambots. You need JavaScript enabled to view it.

Lab Introduction: The Cancer Genetics Lab has recently relocated to The Comprehensive Cancer Center at The University of Alabama at Birmingham, and we are actively recruiting talented, ambitious, smart, creative and motivated scientists to study genetic mechanisms that predispose African Americans to early-onset breast and colon cancer. If you are interested in genetics, genomics, epigenetics, stem cells, aging and cancer, send me an email at This email address is being protected from spambots. You need JavaScript enabled to view it. , or stop by my office (WTI 510D) for an informal visit and scientific discussion.

Project Description: African Americans are diagnosed with breast and colon cancer at young ages more frequently than are European Americans, however, the reasons are not clear. Germline sequence variations in p53 pathway genes that are unequally distributed between people of African and European ancestry may influence the rate at which cancer-causing somatic mutations develop. We seek to functionally characterize single nucleotide polymorphisms in the TP53 and MDM2 genes, to determine how they may contribute to early-onset breast and colon cancer in African Americans. To characterize the unique somatic mutation landscapes of colon and breast cancers that develop from these different genetic backgrounds, our group uses next-gen sequencing approaches to identify novel germline variants that correlate with ethnic ancestry and age of diagnosis. To better understand the interplay between germline variants (SNPS) and cancer phenotype caused by somatic mutations, we use somatic cell knockout technology to create isogenic pairs of cell lines differing only in the polymorphic loci of interest and then biochemically and phenotypically characterize the resulting derivatives. The approach has lead to important discoveries about how a common germline variant in p53 (Pro72Arg) causes profound differences in cancer risk and longevity in humans, and points to novel therapeutic intervention strategies. Our project on African American cancer health disparities will further evaluate the germline and somatic mutation landscapes of breast and colon cancers, to uncover additional genetic differences that are associated with age of diagnosis, and functionally characterize variant alleles to establish their mechanisms of action.

UAB News

  • Becker’s Hospital Review has named the UAB Comprehensive Cancer Center as one of the “100 Hospitals and Health Systems With Great Oncology Programs.” Becker’s Hospital Review has named the UAB Comprehensive Cancer Center as one of the nation’s “100 Hospitals and Health Systems With Great Oncology Programs.” The UAB Cancer Center, the only one from the state of Alabama, was selected for the 2014 edition of its list for leading the way in quality patient care,...

  • A 2010 study by researchers at the University of Alabama at Birmingham found that among a group of more than 100 premenopausal women, fat was significantly reduced in those who consumed the most calcium-rich foods.

UAB Research News

  • New drugs to slow or even prevent Parkinson’s could be in human studies as early as 2015.Written by Matt Windsor An enzyme closely associated with genetic forms of Parkinson’s disease appears to play a larger role in its progression than previously thought, say investigators at the University of Alabama at Birmingham. The new research offers encouraging evidence that drugs to block this enzyme, known as leucine-rich repeat kinase 2 or LRRK2, could slow — or even...

  • UAB School of Nursing's federally funded study shows both the patient and caregiver benefit from early palliative care.The earlier a specific phone-based, palliative care support program can be introduced to caregivers, the better they will be able to cope with the caregiving experience, according to research conducted by University of Alabama at Birmingham School of Nursing investigators. The patient outcomes from the study, known as ENABLE III, were presented June 3 at the American Society of...