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• W1569863982 startingPage "39" @default.
• W1569863982 abstract "This article is meant to introduce the reader to the FA/BRCA pathway, the currently known human FA genes, and their mutations. We review structure and mutational profiles of the 12 FA genes identified to date. The FA genes display striking variability of size and mutational load which partly reflect their genomic composition and functional constraints. Biallelic mutations in three genes (FANCA, FANCC and FANCG) account for over 80% of all FA patients worldwide, and there are only single or very few patients with mutations in the more recently discovered FA genes. FANCA as the most frequently affected gene displays the entire spectrum of genetic alterations, including at least 32% large deletions correlated to Alu-mediated recombination. Viability of FA-D2 patients appears to depend on the presence of hypomorphic mutations and residual protein. Gene frequencies in excess of 1:100 have been observed, mainly for mutations in FANCA and FANCC, in isolated populations with defined founder mutations. With the exception of complementation groups FA-D1 and FA-N whose patients overwhelmingly present with malignancies in early childhood, most FA genes lack strict genotype-phenotype correlations. Rather, the particular type of mutation in a given gene appears to determine the severity of congenital malformations, the age of onset of bone marrow failure, and the length of survival. FA patients who reach adulthood may carry mild mutations or may have developed somatic reversions. Prospective studies are needed for a more definitive exploration of genotype-phenotype correlations." @default.
• W1569863982 created "2016-06-24" @default.
• W1569863982 creator A5001239482 @default.
• W1569863982 creator A5003985566 @default.
• W1569863982 creator A5005551299 @default.
• W1569863982 creator A5017831781 @default.
• W1569863982 date "2007-01-01" @default.
• W1569863982 modified "2023-10-14" @default.
• W1569863982 title "Fanconi Anemia Genes: Structure, Mutations, and Genotype-Phenotype Correlations" @default.
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• W1569863982 doi "https://doi.org/10.1159/000102547" @default.
• W1569863982 hasPublicationYear "2007" @default.
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