|
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 |
CLINVAR |
Integrated analysis of germline and somatic variants in ovarian cancer.
|
24448499 |
2014 |
|
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 |
Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk.
|
23787919 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The youngest affected woman, not known to carry a mutation in BRCA1 or BRCA2, from 747 multiple-case breast cancer families participating in kConFab were selected for PALB2 mutation screening.
|
23448497 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.
|
24136930 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline loss-of-function mutations in PALB2 lead to increased breast cancer risk.
|
28825143 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PALB2 have been identified in breast cancer families worldwide, and recent studies have shown that PALB2 also interacts with BRCA1.
|
20858716 |
2010 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.
|
20153123 |
2010 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the contribution of PALB2 germline mutations in 122 Asian women with breast cancer, all of whom had significant family history of breast and other cancers.
|
23977390 |
2013 |
|
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 |
PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2, including checkpoint kinase 2 (CHEK2) (11.7%), ataxia telangiectasia mutated (ATM; ATM serine/threonine kinase) (9.7%), and partner and localizer of BRCA2 (PALB2) (9.3%).
|
28085182 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of PALB2 gene revealed the novel mutation c.1919C>A (p.S640X) in a 29 years old woman with breast cancer.
|
25666743 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
|
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 |
To understand the role of these homologous recombination (HR) proteins in DNA repair, we functionally characterize effects of missense mutants of the PALB2 WD40 domain that have been reported in breast cancer patients.
|
24141787 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification in 2002 of the Fanconi anaemia (FA) gene FANCD1 as BRCA2 and recent studies indicating that heterozygous mutations in FANCN/PALB2 and FANCJ/ BRIP1 predispose to breast cancer have emphasised an important connection between the FA and BRCA pathway.
|
18258506 |
2008 |
|
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 |
Therefore, PALB2 mutations might be causative for FPC in a small subset of European families, especially in those with an additional occurrence of breast cancer.
|
20412113 |
2010 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
|
25225577 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Fanconi anemia signaling network regulates the spindle assembly checkpoint.
|
23934222 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The PALB2 gene was screened for mutations in 90 familial breast cancer patients from the Creighton University Breast Cancer Family Registry.
|
25794774 |
2015 |