Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

ABSTRACT:

Objective

We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with a germline heterozygous KIF1B nucleotide variant (c.4442G>A, p.Ser1481Asn) in three generations. During the clinical follow-up, one proband's brother, negative for the KIF1B nucleotide variant, developed a bilateral PCC at 31 years. This prompted us to reconsider the genetic analysis.

Design and methods

Germline DNA was analyzed by next-generation sequencing (NGS) using a multi-gene panel plus MLPA or by whole exome sequencing (WES). Tumor-derived DNA was analyzed by SnapShot, Sanger sequencing or NGS to identify loss-of-heterozygosity (LOH) or additional somatic mutations.

Results

A germline heterozygous variant of unknown significance in MAX (c.145T>C, p.Ser4

SUBMITTER: Cardot Bauters C 

PROVIDER: S-EPMC7707833 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature