AACR: Genetic Alterations in PAX Linked to HNSCC Survival

Genomic and epigenomic alterations in PAX gene family linked to racial disparity in survival
AACR: Genetic Alterations in PAX Linked to HNSCC Survival

MONDAY, Dec. 9, 2013 (HealthDay News) -- Genomic and epigenomic alterations in the PAX gene family are associated with racial disparity in head and neck squamous cell carcinoma (HNSCC) survival, according to a study presented at the American Association for Cancer Research's Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved, held from Dec. 6 to 9 in Atlanta.

Rafael Guerrero-Preston, Dr.P.H., from Johns Hopkins University in Baltimore, and colleagues examined the racial disparity in overall HNSCC survival rates using data from an integrated molecular analysis for 107 HNSCC samples. Validation was performed on 279 samples from The Cancer Genome Atlas project.

The researchers observed higher frequencies of TP53, FBXW7, and NOTCH1 mutations in black HNSCC patients, but no differences in PAX1 or PAX5 methylation across all tumor sites combined. However, differences were seen when looking at data based on each tumor site. Compared with non-Latino white patients, black patients had higher ZIC4, PLCB1, and PAX5 methylation, and p53 mutations. In black patients, no NOTCH1 mutations were seen in non-oropharynx HNSCC. In oropharynx HNSCC, non-Latino whites had increased frequency of PAX5 methylation and higher frequency of combined p53 mutation or PAX5 methylation, while the frequency of combined NOTCH1mut or PAX1met was higher for blacks. For all HNSCC patients, worse overall survival was seen with combined PAX5 greater promoter methylation and p53 mutations versus p53 mutations. HNSCC overall survival disparities were related to age and PAX5 greater promoter methylation.

"Our results highlight the differential genomic and epigenomic alterations in PAX, NOTCH, and TP53 pathways between African-American and non-Latino white HNSCC patients," Guerrero-Preston said in a statement.

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