Genetic Risk Factor Identified for Throat Cancer

These could be used for screening high-risk populations, which will be effectual for early diagnosis of NPC

The study of 10,000 individuals' genomic DNA revealed that genetic variations in genes encoding for the human leukocyte antigen (HLA) subtypes and three other genes could significantly influence a person's risk of developing NPC. This type of cancer forms in the epithelial lining of the nasopharynx, the area of the upper throat that lies behind the nose.

The study participants were of southern Chinese decent as this neoplasm is highly prevalent in southern China, Southeast Asia, northern Africa, and Alaska. The annual incidence rate reaches 25 cases per 100,000 people in the endemic regions, which is about 25-fold higher than in the rest of the world.

All cases of NPC were confirmed by histopathology by two pathologists. Cases were matched with controls of identical ethnicity who had no malignancies. Genomic DNA was isolated from whole blood samples. The scientists found that the genetic varaition in HLA, and the three genes known as TNFRSF19, MDSIEVI1 and CDKN2A/2B are significantly associated with NPC. These three susceptibility genes have been reported to be involved in the development of leukemia, suggesting there might be some shared biological mechanism between the developments of these two diseases.

Professor Zeng, MD, PhD, at the Sun Yat-sen University Cancer Center, (Guangzhou, China) said "The use of the high density of genetic markers helps narrow down the chromosome region to search for the causative gene variant(s) associated with HLA loci"

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Sun Yat-sen University Cancer Center