All posts in category Genetic Research

Inherited variants in the MC1R gene and survival from cutaneous melanoma: Author Interview

Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Author Interview:  Dr. Julia A Newton Bishop Professor of Dermatology, Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Cancer Genetics Building, St James’s University Hospital  Leeds, LS9 7TF What are the main findings of the study? This study [...]

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study : Dr. Thyssen

Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study Author Interview: Dr. Jacob Pontoppidan Thyssen MD PhD What are the main findings of the study? We show that common loss-of-function mutations in the filaggrin gene affecting 8-10% of Northern Europeans are associated with fissured [...]

Description of a Cold Sore Susceptibility Gene: Dr. Kriesel

Author Interview: John D. Kriesel, M.D. Associate Professor Infectious Diseases and Internal Medicine University of Utah School of Medicine 30 North 1900 East, Room 4B-322 Salt Lake City, UT 84132 What are the main findings of the study? We found that the previously obscure gene candidate (open reading frame) C21orf91 is linked to frequent cold sores [...]

Germline BAP1 Mutation Predisposes to Uveal Melanoma : Author Interview Dr. Abdel-Rahman

Author Interview: Mohamed H. Abdel-Rahman, MD, PhD Assistant Professor Department of Ophthalmology Division of Human Genetics The Ohio State University What are the main findings of the study? The two main findings of our study are that germline mutation in BAP1 genes predisposes patients (and their family members) to a variety of cancers most significantly [...]

Researchers discover hereditary predisposition of melanoma of the eye

COLUMBUS, Ohio – Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer. The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say. The findings suggest [...]