Gene FANCC
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Also known as
FA3, FAC, FACC, Fanconi anemia complementation group COverview
FANCC (Fanconi Anemia Complementation Group C) encodes a protein that is part of the Fanconi anemia core complex, essential for DNA interstrand crosslink repair. This protein helps protect cells from DNA damage caused by crosslinking agents and reactive aldehydes, working together with other Fanconi anemia proteins to maintain genome stability.Mutations in FANCC cause Fanconi anemia complementation group C, a severe inherited bone marrow failure syndrome characterized by progressive pancytopenia, physical abnormalities, and greatly increased cancer risk. FANCC mutations are particularly common in Ashkenazi Jewish populations with a carrier frequency of approximately 1 in 100. Carriers have increased breast and ovarian cancer risk similar to BRCA mutations.
Understanding your FANCC genetic status is important for carrier screening, particularly in populations with elevated carrier frequency. Identification of carriers enables informed family planning decisions and heightened cancer surveillance for heterozygous individuals.