Fanconi anemia

Causes

What gene change causes Fanconi anemia?

As of June 1, 2016, mutations or abnormalities in 19 genes have been determined to cause Fanconi anemia. These 19 genes include: FANCA, -B, -C, -D1 (also known as BRCA2), -D2,- E,- F, -G, -I,- J (also known as BRIP1),- L, -M, -N, -O, -P, -Q, RAD51, BRCA1, and –T. Proteins made from genes are involved in the FA pathway, which helps with repairing damaged DNA (or genetic material) during DNA replication (the process by which new copies of DNA are made).

References
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Why is Fanconi anemia caused by the changes in the FANC genes?

Why is Fanconi anemia caused by the changes in the FANC genes?

As of June 1, 2016, mutations or abnormalities in 19 genes have been determined to cause Fanconi anemia. These 19 genes include: FANCA, -B, -C, -D1 (also known as BRCA2), -D2,- E,- F, -G, -I,- J (also known as BRIP1),- L, -M, -N, -O, -P, -Q, RAD51, BRCA1, and –T. Proteins made from genes are involved in the FA pathway, which helps with repairing damaged DNA (or genetic material) during DNA replication (the process by which new copies of DNA are made). The FA pathway responds to a specific type of DNA damage called interstrand cross-links (ICLs), in which the two opposite strands of DNA are abnormally fused. ICLs stop the process of DNA replication. Without a properly functioning FA pathway, cells die and DNA damage builds up, which leads to features seen in Fanconi anemia.

References

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