Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors

ConclusionsThis newly identified germline variant could improve the identification of clinical phenotypes and the early diagnosis of MEN1. Clinician should consider the present of situation that intron variant causing detection error. Re-designing the primers close to the variant site for gene detection could avoid this situation.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research