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

Stavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos Vlahos

BMJ case reports 2021 Mar 24

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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 cancer, by examining the presentation and management of a 65-year-old female patient with history of bilateral breast cancer of two different histological categories (ductal and in situ lobular). Here, we present a further genetic analysis beyond the common clinical practice to understand the patient's genetic predisposition and improve their long-term management. © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Citation

Stavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos Vlahos. Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient. BMJ case reports. 2021 Mar 24;14(3)