Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compared with non-carriers, PALB2 pathogenic mutation carriers developed breast cancer at a younger age (47.52 years vs. 51.35 years, p = 0.016) and were more likely to have triple-negative (24.1% vs. 13.4%, p = 0.022) or HER2 negative (87.0% vs. 74.2%, p = 0.031) breast cancer and large breast tumors (> 2 cm) at diagnosis (72.2% vs. 57.0%, p = 0.024).
|
31768816 |
2020 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The high incidence of deleterious variant detection in PALB2 supports its significant role in breast cancer susceptibility and reinforces its inclusion in the HBOC genetic diagnostic process.
|
31786208 |
2020 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44).
|
30128536 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53).
|
31206626 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina.
|
31446535 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer.
|
31067289 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One pathogenic mutation in the PALB2 gene was detected in a patient with no breast cancer in her family.
|
31054147 |
2019 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair.
|
30309218 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study aims to characterize a novel PALB2 synonymous variant c.18G>T (p.Gly6=) identified in a family with pancreatic and breast cancers.
|
30255452 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations.
|
31467304 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that BRCA1 mutation status may be associated with a worse disease progression in patients with breast cancer, and women who harbored a PALB2 mutation might be at a higher risk of death due to breast cancer compared to noncarriers.
|
30720863 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein, we have assessed the possible founder effect of PALB2 c.2257C>T (p.Arg753*) truncating variant among Greek breast cancer patients, while investigating possible correlations with cancer diagnoses.
|
31089269 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer.
|
30933323 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have characterized a novel PALB2 variant c.3201+5G>T identified in a breast cancer family.
|
30552643 |
2019 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia.
|
31017574 |
2019 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
BRCA1/BRCA2/PALB2 multigene testing for all patients detected with BC annually would cost £10 464/QALY (payer perspective) or £7216/QALY (societal perspective) in the United Kingdom or $65 661/QALY (payer perspective) or $61 618/QALY (societal perspective) in the United States compared with current BRCA testing based on clinical criteria or FH.
|
31580391 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
|
31757951 |
2019 |
Malignant neoplasm of breast
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings demonstrate that PALB2 does undergo bi-allelic inactivation in the majority of breast cancers from PALB2 germline mutation carriers.
|
29431189 |
2018 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, deletion of mouse Palb2, another breast cancer susceptibility gene with functional similarities to BRCA1, does not rescue Cobra1 knockout-associated mammary defects.
|
29426838 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some of the tagging single-nucleotide polymorphisms of 5 genes ( PALB2, TP53, Nijmegen breakage syndrome 1, PTEN, and BRCA1-interacting protein 1) involved in the monoubiquitinated FANCD2-DNA damage repair pathway were significantly associated with breast cancer risk.
|
30799775 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.
|
29484706 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million.
|
29361001 |
2018 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A frameshift deletion in PALB2 was found in one member of a family with a history of gastric and breast cancer.
|
29706558 |
2018 |