Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina.
|
31446535 |
2019 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One pathogenic mutation in the PALB2 gene was detected in a patient with no breast cancer in her family.
|
31054147 |
2019 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
|
31757951 |
2019 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conducted genome-wide copy number analysis and targeted sequencing of PALB2 and other breast cancer driver genes in 15 invasive breast cancers from individuals carrying pathogenic germline mutations in PALB2.
|
29431189 |
2018 |
Breast Carcinoma
|
0.700 |
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 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer.
|
28837162 |
2018 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study contributes to the accumulating evidence indicating that PALB2 should be included in genetic testing for breast cancer susceptibility in these populations to enhance risk assessment and management of women at high-risk of developing breast cancer.
|
29052111 |
2018 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
High-penetrance germline mutations, including TP53 and PALB2, tended to occur with high frequency in young (< 35 years) breast cancer patients (4/19, 21.1%) than in those diagnosed with breast cancer at ≥35 years of age (1/101, 1.0%; p = 0.003).
|
29338689 |
2018 |
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results of this study suggest that SNPs in the PALB2 loci rs120963/rs249935/rs447529, but not in the other 3 loci (rs152451/rs8053188/rs16940342), may contribute to breast cancer susceptibility.
|
30458447 |
2018 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2, and RAD51D were associated with high risk (odds ratio > 5.0) of TNBC and greater than 20% lifetime risk for overall breast cancer among Caucasians.
|
30099541 |
2018 |
Breast Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in genes of the breast cancer susceptibility gene (BRCA) pathway, namely, BRCA1, BRCA2, and PALB2, can provide useful information for the efficacy of platinum-based or poly ADP-ribose polymerase inhibitors chemotherapeutic regimens.
|
29802286 |
2018 |