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Genetics Home Reference: your guide to understanding genetic conditions
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PALB2

Reviewed August 2007

What is the official name of the PALB2 gene?

The official name of this gene is “partner and localizer of BRCA2.”

PALB2 is the gene's official symbol. The PALB2 gene is also known by other names, listed below.

What is the normal function of the PALB2 gene?

The PALB2 gene provides instructions for making a protein called partner and localizer of BRCA2. As its name suggests, this protein interacts with the protein produced from the BRCA2 gene. These two proteins work together to mend broken strands of DNA, which prevents cells from accumulating genetic damage that can trigger them to divide uncontrollably. Because the PALB2 and BRCA2 proteins help control the rate of cell growth and division, they are described as tumor suppressors.

The PALB2 protein stabilizes the BRCA2 protein and anchors it to structures within the nucleus, allowing the BRCA2 protein to fix damaged DNA. Breaks in DNA can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair mistakes in DNA, the PALB2 and BRCA2 proteins play a critical role in maintaining the stability of a cell's genetic information.

Does the PALB2 gene share characteristics with other genes?

The PALB2 gene belongs to a family of genes called FANC (Fanconi anemia, complementation groups).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PALB2 gene related to health conditions?

breast cancer - associated with the PALB2 gene

About 10 mutations in the PALB2 gene have been identified in people with familial forms of breast cancer. These mutations occur in one copy of the gene in each cell and result in the production of an abnormally short version of the PALB2 protein. The defective protein cannot work with the BRCA2 protein to repair damaged DNA effectively. As defects accumulate in DNA, they can trigger cells to grow and divide uncontrollably and form a tumor. Researchers believe that PALB2 gene mutations may be associated with an approximately 2-fold increase in breast cancer risk.

other disorders - caused by mutations in the PALB2 gene

A condition called Fanconi anemia type N (FA-N) results from two mutated copies of the PALB2 gene in each cell. These mutations severely reduce or eliminate the activity of the PALB2 protein. Without enough of this protein, breaks in DNA are not repaired normally and genetic damage can build up over time. As a result, people with Fanconi anemia are prone to several types of cancer. In particular, Fanconi anemia type N increases the risk of several childhood cancers, including a rare form of kidney cancer called Wilms' tumor and a brain tumor called medulloblastoma. Additionally, people with Fanconi anemia experience bone marrow suppression, which causes an abnormal reduction in the number of red blood cells, white blood cells, and blood platelets made by the bone marrow. The reduced production of red blood cells causes the anemia characteristic of this disorder.

Where is the PALB2 gene located?

Cytogenetic Location: 16p12.2

Molecular Location on chromosome 16: base pairs 23,603,161 to 23,641,356

The PALB2 gene is located on the short (p) arm of chromosome 16 at position 12.2.

The PALB2 gene is located on the short (p) arm of chromosome 16 at position 12.2.

More precisely, the PALB2 gene is located from base pair 23,603,161 to base pair 23,641,356 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PALB2?

You and your healthcare professional may find the following resources about PALB2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PALB2 gene or gene products?

  • FANCN
  • Fanconi anemia, complementation group N
  • FLJ21816
  • PALB2_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PALB2?

anemia ; blood platelets ; bone marrow ; cancer ; cell ; cell division ; DNA ; familial ; gene ; kidney ; medulloblastoma ; nucleus ; platelets ; protein ; radiation ; tumor ; white blood cells

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

References

  • Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. Epub 2007 Feb 7. (http://www.ncbi.nlm.nih.gov/pubmed/17287723?dopt=Abstract)
  • Gene Review: Fanconi Anemia (http://www.ncbi.nlm.nih.gov/books/NBK1401)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79728)
  • Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31. (http://www.ncbi.nlm.nih.gov/pubmed/17200668?dopt=Abstract)
  • Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007 Feb;39(2):162-4. Epub 2006 Dec 31. (http://www.ncbi.nlm.nih.gov/pubmed/17200671?dopt=Abstract)
  • Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. Epub 2007 Apr 9. (http://www.ncbi.nlm.nih.gov/pubmed/17420451?dopt=Abstract)
  • Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet. 2007 Feb;39(2):159-61. Epub 2006 Dec 31. (http://www.ncbi.nlm.nih.gov/pubmed/17200672?dopt=Abstract)
  • Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006 Jun 23;22(6):719-29. (http://www.ncbi.nlm.nih.gov/pubmed/16793542?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: August 2007
Published: December 16, 2014