Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
PALB2 mutation carriers were also more likely to have family histories of breast and/or ovarian cancer (27.8% vs. 8.4%, p < 0.001) and any types of cancer (57.4% vs. 31.6%, p < 0.001) when compared with non-carriers.
|
31768816 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, the complete spectrum of predicted pathogenic PALB2 variants associated with each tissue type of cancer remains unknown.
|
31619740 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These findings show that the HDR assay is an effective method for screening the influence of inherited variants on PALB2 function, that four missense variants impact PALB2 function and may influence cancer risk and response to therapy, and suggest that few inherited PALB2 missense variants disrupt PALB2 function in DNA repair.
|
31636395 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
With a molecular emphasis, we present PALB2-associated cancer mutations and their detailed analysis by functional assays.
|
30638972 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, our functional assays identify damaging VUS in PALB2 that may increase cancer risk.
|
31757951 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results support a pathogenic classification for PALB2 c.3201+5G>T, highlighting the impact of variants causing an imbalanced expression of natural RNA isoforms in cancer susceptibility.
|
30552643 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although PALB2 truncating mutations are rarely identified, segregation analysis and early onset cancer suggest a significant contribution to HBOC susceptibility in the Spanish population.
|
30521987 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
PALB2, RAD51C, and BARD1 are additional tumor suppressor genes which also mediate repair of double stranded DNA breaks through the HRD pathway and are implicated in hereditary breast (PALB2; BARD1) and ovarian (RAD51C) cancer.
|
30772928 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
However, from the limited data that exist, PALB2 may be an example of a cancer predisposition gene that does not conform to Knudson's 'two hit' paradigm.
|
29431189 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
|
29430632 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Nineteen patients (22.4%) carried a deleterious germline mutation in a cancer susceptibility gene: BRCA1 (7), BRCA2 (8), PALB2 (1), ATM (1), MSH2 (1) and PMS2 (1).
|
28528518 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The results of this study suggest a role for the known cancer predisposition gene PALB2 in families with hereditary diffuse gastric cancer and no detected pathogenic CDH1 variants.
|
29706558 |
2018 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
A decision-analytic model comparing lifetime costs and effects of criteria/FH-based BRCA1/BRCA2 testing is compared with BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing in those fulfilling clinical criteria/strong FH of cancer (≥10% BRCA1/BRCA2 probability) and all women age 30 years or older.
|
29361001 |
2018 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
PALB2 (partner and localizer of BRCA2) is a cancer predisposing gene recently described that encodes a protein partner of BRCA2 involved in DNA double-strand break repair and cell cycle control.
|
29484706 |
2018 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Thus, our results also suggest a prosurvival and pro-oncogenic role of NF-κB in <i>PALB2</i>-mutant cells.<b>Significance:</b> This study explores novel tumor suppression mechanisms of the BRCA1-PALB2 DNA damage response pathway and implicates NF-κB activation as a protumorogenic event and possible therapeutic target.<i>Cancer Res; 78(14); 3969-81.©2018 AACR</i>.
|
29739757 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Parallel analyses of other germline variants in the PALB2 N-terminal BRCA1-binding domain identified multiple variants that affect HR function to varying degrees, suggesting their possible contribution to cancer development.
|
28319063 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We also examine the involvement of PALB2 mutations in the predisposition to cancer and the role of PALB2 in stimulating error-free DNA repair through the FA/HR pathway.
|
28858227 |
2017 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
BRCA2 and PALB2 are tumor suppressors implicated in cancer.
|
27974172 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To date, predicting the functional consequences of PALB2 mutations has been challenging as they lead to different cancer risks.
|
28158555 |
2017 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
These results add strength to the evidence showing that PALB2 is involved in BC risk for both sexes and indicate that consideration should be given to clinical testing of PALB2 for BRCA1/2 mutation-negative families with multiple MBC and FBC cases.Cancer 2017;123:210-218.© 2016 American Cancer Society.
|
27648926 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation.
|
26968956 |
2016 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This article will provide an overview of the PALB2 gene, cancer risks associated with carrying a PALB2 mutation, and implications for patient care.
|
25542327 |
2015 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our data demonstrate the utility of Hi-Plex in the context of high-throughput testing for rare genetic mutations and provide additional timely information about the nature and prevalence of PALB2 mutations, to enhance risk assessment and risk management of women at high risk of cancer attending clinical genetic services.
|
25575445 |
2015 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Because PALB2 lies at the crossroads between FA, HR and cancer susceptibility, understanding its function has become the primary focus of several studies.
|
24870022 |
2014 |