Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Where possible, relatives of women found to carry PALB2 mutations were genotyped for the family-specific mutation, mutant transcripts were characterised and breast tumours arising in mutation carriers were recalled and reviewed.
|
23448497 |
2013 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Systematic pathology review was conducted on breast tumours from 28 female carriers of PALB2 mutations (non-carriers of other known high-risk mutations, recruited through various resources with varying ascertainment) and on breast tumours from a population-based sample of 828 Australian women diagnosed before the age of 60 years (which included 40 BRCA1 and 18 BRCA2 mutation carriers).
|
23787919 |
2013 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
A recurrent mutation in PALB2 in Finnish cancer families.
|
17287723 |
2007 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
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 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Penetrance analysis of the PALB2 c.1592delT founder mutation.
|
18628482 |
2008 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RAD51 foci formation and PALB2 LOH status were evaluated in primary breast tumor samples from the carriers.
|
30552643 |
2019 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
|
17200668 |
2007 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Analysis of PALB2/FANCN-associated breast cancer families.
|
17420451 |
2007 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.
|
18053174 |
2007 |
Mammary Neoplasms
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Association of common PALB2 polymorphisms with breast cancer risk: a case-control study.
|
18794107 |
2008 |
Mammary Neoplasms
|
0.500 |
Biomarker
|
group |
LHGDN |
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
|
16793542 |
2006 |
Mammary Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
|
23657012 |
2013 |
Mammary Neoplasms
|
0.500 |
Biomarker
|
group |
LHGDN |
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
|
18557994 |
2008 |
Mammary Neoplasms
|
0.500 |
Biomarker
|
group |
CTD_human |
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.
|
28825726 |
2017 |
Mammary Neoplasms
|
0.500 |
PosttranslationalModification
|
group |
BEFREE |
Aberrant promoter hypermethylation of PALB2 is more frequent than the reported level of PALB2 point mutations in breast tumors from BRCA1/2-negative families and is similar to the frequency of BRCA1 hypermethylation in inherited and sporadic breast and ovarian cancers.
|
18281473 |
2008 |
Mammary Neoplasms
|
0.500 |
AlteredExpression
|
group |
LHGDN |
Aberrant promoter hypermethylation of PALB2 is more frequent than the reported level of PALB2 point mutations in breast tumors from BRCA1/2-negative families and is similar to the frequency of BRCA1 hypermethylation in inherited and sporadic breast and ovarian cancers.
|
18281473 |
2008 |
Mammary Neoplasms
|
0.500 |
CausalMutation
|
group |
CLINVAR |
|
|
|