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Genetics Home Reference: your guide to understanding genetic conditions
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FANC gene family

Reviewed January 2012

What are the FANC genes?

The genes in the FANC gene family provide instructions for producing proteins that are involved in a cell process known as the Fanconi anemia (FA) pathway. The main purpose of the FA pathway is to locate DNA damage and trigger its repair. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs), which occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together. ICLs stop the process of making new copies of DNA, called DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

A main component of the FA pathway is the FA core complex, which is composed of eight FANC proteins and two additional proteins called Fanconi anemia-associated proteins (FAAPs). After DNA damage is identified, the FA core complex turns on (activates) two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attracts DNA repair proteins to the area of the damage so it can be repaired and DNA replication can continue.

Mutations in any of the FANC genes disrupt the process of repairing DNA damage, resulting in a condition called Fanconi anemia. This condition is characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities.

FANC gene mutations are sometimes associated with various types of cancer in people without the other features of Fanconi anemia. For example, mutations in the BRCA2, BRIP1, or PALB2 genes are associated with an increased risk of early-onset breast, ovarian, and pancreatic cancers.

Which genes are included in the FANC gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the FANC family (http://www.genenames.org/genefamily/fanc.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the FANC gene family: BRCA2, BRIP1, FANCA, FANCC, FANCG, and PALB2.

What conditions are related to genes in the FANC gene family?

Genetics Home Reference includes these conditions related to genes in the FANC gene family:

  • breast cancer
  • Fanconi anemia

Where can I find additional information about the FANC gene family?

You may find the following resources about the FANC gene family helpful.

  • Madame Curie Bioscience Collection: The FANC Genes (http://www.ncbi.nlm.nih.gov/books/NBK6302/)

What glossary definitions help with understanding the FANC gene family?

anemia ; bone marrow ; cancer ; cell ; DNA ; DNA damage ; DNA repair ; DNA replication ; gene ; helicase ; molecule ; ovarian ; pancreatic ; protein ; toxic ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the FANC gene family.

  • Deakyne JS, Mazin AV. Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21568838?dopt=Abstract)
  • Alter BP, Kupfer G. Fanconi Anemia. 2002 Feb 14 [updated 2013 Feb 07]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from http://www.ncbi.nlm.nih.gov/books/NBK1401/ (http://www.ncbi.nlm.nih.gov/pubmed/20301575?dopt=Abstract)
  • Kitao H, Takata M. Fanconi anemia: a disorder defective in the DNA damage response. Int J Hematol. 2011 Apr;93(4):417-24. doi: 10.1007/s12185-011-0777-z. Epub 2011 Feb 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21331524?dopt=Abstract)
  • Kee Y, D'Andrea AD. Expanded roles of the Fanconi anemia pathway in preserving genomic stability. Genes Dev. 2010 Aug 15;24(16):1680-94. doi: 10.1101/gad.1955310. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20713514?dopt=Abstract)
  • Green AM, Kupfer GM. Fanconi anemia. Hematol Oncol Clin North Am. 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19327579?dopt=Abstract)
  • de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009 Jul 31;668(1-2):11-9. doi: 10.1016/j.mrfmmm.2008.11.004. Epub 2008 Nov 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19061902?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2012
Published: July 21, 2014