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Article

Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.

BMJ case reports - 24 Mar 2021

Kastora Stavroula, Triantafyllidou Olga, Kounidas Georgios, Vlahos Nikolaos

Abstract excerpt

Fanconi anaemia is a heterogeneous condition associated with mutations in the Fanconi anaemia complementation group (FANC). The FANC group has also been extensively associated with tumourigenesis due to its intricate association with the cellular repair mechanism. In this case report, we are drawing initial associations between a previously unreported FANC-A gene point mutation (P1222L) and familial breast...

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Identifiers

PMID: 33762291
DOI: 10.1136/bcr-2020-241251
PMCID: PMC7993164

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