Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. 28319063

2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. 25959805

2015
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. 25225577

2014
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer. 23657012

2013
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Our results show that mutation analysis of the PALB2 gene, including the analysis of LGRs, is primarily indicated in patients with HBC in case of their BRCA1 and BRCA2 negativity. 24136930

2013
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Given this mutation prevalence and risk, consideration might be given to clinical testing of PALB2 by complete genomic sequencing for familial breast cancer patients with wild-type sequences at BRCA1 and BRCA2. 21285249

2011
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN The PALB2 1592delT mutation has a strong effect on familial breast cancer risk. 19383810

2009
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is present at significantly elevated frequency in familial breast cancer cases compared with ancestry-matched population controls. 17287723

2007
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 Biomarker CLINGEN Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542

2006
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Rare mutations in XRCC2 increase the risk of breast cancer. 22464251

2012
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Homologous recombination deficiency leads to profound genetic instability in cells derived from Xrcc2-knockout mice. 14678973

2003
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice. 11118202

2000
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN The XRCC2 and XRCC3 repair genes are required for chromosome stability in mammalian cells. 10422536

1999
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN The homologous recombination protein RAD51D protects the genome from large deletions. 27924006

2017
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444

2017
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Germline mutations in RAD51D confer susceptibility to ovarian cancer. 21822267

2011
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN RAD51 up-regulation bypasses BRCA1 function and is a common feature of BRCA1-deficient breast tumors. 17942895

2007
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Extensive chromosomal instability in Rad51d-deficient mouse cells. 15781618

2005
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Identification and purification of two distinct complexes containing the five RAD51 paralogs. 11751635

2001
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.510 Biomarker CLINGEN Evidence for simultaneous protein interactions between human Rad51 paralogs. 10749867

2000
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. 26884562

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. 21542898

2011