1. Germline EGFR variants over-represented in adolescent and young adult (AYA) females with adrenocortical carcinoma

Adrenocortical Carcinoma (ACT) is a rare endocrine tumor with poor overall prognosis and slight overrepresentation in females. In children, ACT is associated with inherited cancer syndromes with 50-80% of childhood ACT associated with TP53 germline mutations. ACT in adolescent and young adult (AYA) are rarely due to germline TP53, IGF2, PRKAR1A and, MEN1 variants. We analyzed exome sequencing data from 21 children (C, 39y) with ACT, and retained all pathogenic, likely pathogenic, and highly prioritized Variants of Uncertain Significance.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research