Dataset Information
Genotyping by whole-exome sequencing of human with hereditary pheochromocytoma
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
DISEASE(S): Hereditary pheochromocytoma
SUBMITTER: Alberto Cascon
PROVIDER: E-MTAB-591 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Nature genetics 20110619 7
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. ...[more]
