Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
|
28319063 |
2017 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
|
25959805 |
2015 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PALB2 are less common than BRCA1 and BRCA2 in familial breast cancer patients.
|
25794774 |
2015 |
Breast Cancer, Familial
|
0.700 |
SusceptibilityMutation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
|
24556926 |
2014 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
|
25225577 |
2014 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that PALB2 mutations occur at a frequency of ~1% in patients with hereditary breast cancer.
|
24415441 |
2014 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
|
23657012 |
2013 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer.
|
23650262 |
2013 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
|
23657012 |
2013 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer.
|
23935836 |
2013 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
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 |
Breast Cancer, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been demonstrated that monoallelic PALB2 (Partner and Localizer of BRCA2) gene mutations predispose to familial breast cancer.
|
22052327 |
2012 |
Breast Cancer, Familial
|
0.700 |
Biomarker
|
disease |
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 |