PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation. 28240985 2017
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 24141787 2014
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR PALB2 and breast cancer: ready for clinical translation! 23935381 2013
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. 22692731 2012
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011
dbSNP: rs180177115
rs180177115
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. 20871615 2010