Variant: rs118203997

present in Gene: PALB2 present in Chromosome: 16 Position on Chromosome: 23634893 Alleles of this Variant: A/G;T

rs118203997 in PALB2 gene and Neoplastic Syndromes, Hereditary PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

PMID 17200672 2007 Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

PMID 23935836 2013 Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.