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FLASH GENE
Symbol PALB2 contributors: mct/npt/pgu - updated : 02-02-2015
HGNC name partner and localizer of BRCA2
HGNC id 26144
ASSOCIATED DISORDERS
corresponding disease(s) FANCN
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
c.1592delT, in familial breast cancer cases, truncating the protein, leading to little BRCA2-binding capacity and deficient in homologous recombination and crosslink repair
tumoral germinal mutation     loss of function
in patients with primary ovarian, fallopian tube, or peritoneal cancers
Susceptibility
  • to breast cancer
  • to colorectal cancer (CRC)
  • Variant & Polymorphism other
  • truncating mutations increasing the risk of breast cancer, moderate-risk allele for breast cancer, founder mutations in Quebec and Finland
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    synthetic lethal therapeutic strategy for cancer treatment using PARP inhibitors
    ANIMAL & CELL MODELS