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Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient
  1. Stavroula Kastora1,2,
  2. Olga Triantafyllidou3,4,
  3. Georgios Kounidas2 and
  4. Nikolaos Vlahos4
  1. 1Acute Medicine, Grampian University Hospitals NHS Trust, Aberdeen, UK
  2. 2School of Medicine, University of Aberdeen College of Life Sciences & Medicine, Aberdeen, UK
  3. 3Reproductive Medicine Unit, “Leto” Maternity Hospital, Athens, Greece
  4. 42nd Department of Obstetrics and Gynaecology, Aretaieion Panepistemiako Nosokomeio, Athens, Attica, Greece
  1. Correspondence to Dr Stavroula Kastora; stavroula.kastora{at}


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.

  • obstetrics
  • gynaecology and fertility
  • genetic screening / counselling

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  • Contributors Genetic analysis: SK, concept, analysis, format, revision, editing, literature search and drafted the manuscript: SK, OT and GK literature search, extraction analysis and drafted the manuscript: SK and OT. Expert opinion NV and OT.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.