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Article

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

Cold Spring Harbor molecular case studies - 1 Dec 2020

Lach Francis P, Singh Sonia, Rickman Kimberly A, Ruiz Penelope D, Noonan Raymond J, Hymes Kenneth B, DeLacure Mark D, Kennedy Jennifer A, Chandrasekharappa Settara C, Smogorzewska Agata

Abstract excerpt

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...

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Identifiers

PMID: 33172906
DOI: 10.1101/mcs.a005595
PMCID: PMC7784490

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