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 GeneticVariation BEFREE These variants were found in genes associated with known or suspected BC predisposition (PALB2, BARD1, CHEK2, RAD51C and FANCA) or in predisposing genes linked to other cancer types but not well-studied in the context of familial BC (EXO1, RECQL4, CCNH, MUS81, TDP1, DCLRE1A, DCLRE1C, PDE11A and RINT1) and genes associated with different hereditary syndromes but not yet clearly associated with familial cancer syndromes (ABCC11, BBS10, CD96, CYP1A1, DHCR7, DNAH11, ESCO2, FLT4, HPS6, MYH8, NME8 and TTC8). 30947698

2019

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility. 30303537

2019

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 Biomarker BEFREE The risk attributed to some of these genes (e.g., CDKN2A and PALB2 for BC) was similar to that observed for BRCA2. 30733081

2019

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE Using Exome Aggregation Consortium control data, we confirm significant associations of heterozygous germ line mutations with BC for ATM (OR: 3.63, 95%CI: 2.67-4.94), CDH1 (OR: 17.04, 95%CI: 3.54-82), CHEK2 (OR: 2.93, 95%CI: 2.29-3.75), PALB2 (OR: 9.53, 95%CI: 6.25-14.51), and TP53 (OR: 7.30, 95%CI: 1.22-43.68). 29522266

2018

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE In five patients (5 of 83; 6% of cohort), we detected causative pathogenic variants in established hereditary breast cancer susceptibility genes (i.e., PALB2, CHEK2, ATM). 30086788

2018

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 GeneticVariation BEFREE PALB2 c.1676A > G (rs152451A/G) and c.2993C > T (rs45551636C/T) variants were significantly associated with increased BC risk only in cases with a strong family history of BC (OR = 1.9 [CI 95% 1.3-2.8] p < 0.01 and OR = 3.3 [CI 95% 1.4-7.3] p < 0.01, respectively). 25636233

2015

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 Biomarker BEFREE Most of the previous studies of PALB2 have focused on familial breast cancer cases with normal/wild-type BRCA1 and BRCA2 (BRCAx). 25833210

2015

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE PALB2 gene is mutated in about 1-2% of familial breast cancer as well as in 3-4% of familial pancreatic cancer cases. 25666743

2015

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 GeneticVariation BEFREE Mutations in PALB2 are less common than BRCA1 and BRCA2 in familial breast cancer patients. 25794774

2015

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 SusceptibilityMutation ORPHANET Loss-of-function mutations in PALB2 are an important cause of hereditary breast cancer, with respect both to the frequency of cancer-predisposing mutations and to the risk associated with them. 25099575

2014

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 Biomarker BEFREE PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. 24556926

2014

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE Loss-of-function mutations in PALB2 are an important cause of hereditary breast cancer, with respect both to the frequency of cancer-predisposing mutations and to the risk associated with them. 25099575

2014

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 GeneticVariation BEFREE These results suggest that PALB2 mutations occur at a frequency of ~1% in patients with hereditary breast cancer. 24415441

2014

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 Biomarker GENOMICS_ENGLAND 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 BEFREE Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer. 23650262

2013

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. 23341105

2013

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 GeneticVariation BEFREE Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. 23935836

2013

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE 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 GeneticVariation BEFREE It has been demonstrated that monoallelic PALB2 (Partner and Localizer of BRCA2) gene mutations predispose to familial breast cancer. 22052327

2012

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 Biomarker BEFREE Other genes that include CHEK2, PTEN, TP53, ATM, STK11/LKB1, CDH1, NBS1, RAD50, BRIP1 and PALB2 have been described to be high or moderate penetrance breast cancer susceptibility genes, all contributing to the hereditary breast cancer spectrum. 21336636

2011