PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. 27783279 2017
dbSNP: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
dbSNP: rs180177100
rs180177100
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs180177126
rs180177126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs180177126
rs180177126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844 2016
dbSNP: rs375699023
rs375699023
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 GeneticVariation CLINVAR A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. 27067391 2016
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. 27624329 2016
dbSNP: rs118203998
rs118203998
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs767633741
rs767633741
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 GeneticVariation CLINVAR Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. 26250988 2015
dbSNP: rs180177126
rs180177126
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2014
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. 24556926 2014
dbSNP: rs587782337
rs587782337
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		TCATTAAC 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
dbSNP: rs180177083
rs180177083
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. 23448497 2013
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. 23448497 2013
dbSNP: rs180177132
rs180177132
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2. 24206657 2013
dbSNP: rs767633741
rs767633741
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 GeneticVariation CLINVAR Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. 23977390 2013
dbSNP: rs118203998
rs118203998
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
dbSNP: rs180177083
rs180177083
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. 21409391 2011
dbSNP: rs180177083
rs180177083
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011