mercredi 6 février 2013

Mutated genes in cancer (85) –PALB2 (FANCN)

PALB2 (alias FANCN)

In databases :

Entrez ( 79728 or PALB2
Ensembl ( ENSG00000083093
UniProt ( Q86YC2
OMIM ( 610355
GeneCards ( PALB2
HGNC ( 26144 or PALB2

Gene locus :


Protein name:

Partner and localizer of BRCA2

Protein Size:

1186 amino acids; about 131 kDa


This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. It also enables the recombinational repair and checkpoint functions of BRCA2.

Cancer-related alterations:

Genetic variations in PALB2 are associated with breast cancer susceptibility.

Defects in PALB2 are the cause of Fanconi anemia complementation group N (FANCN)
(see Fanconi Anemia genes)

Somatic PALB2 point mutations are rare.

References (open access):

A PALB2 mutation associated with high risk of breast cancer. Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L, Giles GG, Goldgar DE, Foulkes WD, Hopper JL; kConFab for the Beast Cancer Family Registry. Breast Cancer Res. 2010;12(6):R109.

PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Zhang F, Fan Q, Ren K, Andreassen PR. Mol Cancer Res. 2009 Jul;7(7):1110-8.

Germline mutations and polymorphisms in the origins of cancers in women. Hirshfield KM, Rebbeck TR, Levine AJ. J Oncol. 2010;2010:297671.

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