Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.

ABSTRACT: Fanconi anemia (FA) is a clinically heterogenous and genetically diverse disease with 22 known complementation groups (FA-A to FA-W), resulting from the inability to repair DNA interstrand cross-links. This rare disorder is characterized by congenital defects, bone marrow failure, and cancer predisposition. FANCA is the most commonly mutated gene in FA and a variety of mostly private mutations have been documented, including small and large indels and point and splicing variants. Genotype-phenotype associations in FA are complex, and a relationship between particular FANCA variants and the observed cellular phenotype or illness severity remains unclear. In this study, we describe two siblings with compound heterozygous FANCA variants (c.3788_3790delTCT and c.4199G > A) who both presented w

SUBMITTER: Lach FP 

PROVIDER: S-EPMC7784490 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature