Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency

BRCA1 gene is associated with breast-ovarian cancer susceptibility, however, carrying two variants in this gene causes a condition recognized as a very rare form of Fanconi Anemia. Here we present clinical features of nine individuals carrying two variants in BRCA1 gene, in order to understand the patients’ health risk. Features include growth failure, small head size, skin spots, mild developmental delay and early onset solid tumors. Unlike “classic” Fanconi Anemia, these patients do not show bone marrow failure. We hypothesize that disease class should be reframed and medical management should emphasize on detection of solid tumor and avoiding radiation exposure.  (By Dr. Adela Chirita Emandi, https://jmg.bmj.com/content/early/2020/08/25/jmedgenet-2020-107198 )

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