Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
10-year survival for women with breast cancer and a PALB2 mutation was 48·0% (95% CI 36·5-63·2), compared with 74·7% (73·5-75·8) for patients with breast cancer without a mutation (adjusted hazard ratio for death 2·27, 95% CI 1·64-3·15; p<0·0001).
|
25959805 |
2015 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
PALB2 is a recently identified breast cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures.
|
18288683 |
2008 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PALB2 mutations were responsible for approximately 1% of Chinese women with early-onset breast cancer and affected relatives.
|
18446436 |
2009 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
|
23657012 |
2013 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
PALB2 [partner and localizer of BRCA2 (breast cancer early-onset 2)] [corrected] has emerged as a key player in the maintenance of genome integrity.
|
24870022 |
2014 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PALB2 exons were amplified from 460 BRCA1/2-mutation negative women with familial breast and/or ovarian cancer and early-onset breast cancer using AmpliSeq technology and sequenced on an Ion Torrent PGM sequencer.
|
28279176 |
2017 |
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 |
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 |
A frameshift deletion in PALB2 was found in one member of a family with a history of gastric and breast cancer.
|
29706558 |
2018 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A high frequency of PALB2 mutations in Jamaican patients with breast cancer.
|
28194609 |
2017 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.
|
20122277 |
2010 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A PALB2 mutation associated with high risk of breast cancer.
|
21182766 |
2010 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), observed pathogenic variants in 5 of 16 genes were associated with high or moderately increased risks of breast cancer: ATM (OR, 2.78; 95% CI, 2.22-3.62), BARD1 (OR, 2.16; 95% CI, 1.31-3.63), CHEK2 (OR, 1.48; 95% CI, 1.31-1.67), PALB2 (OR, 7.46; 95% CI, 5.12-11.19), and RAD51D (OR, 3.07; 95% CI, 1.21-7.88).
|
28418444 |
2017 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although an association between protein-truncating variants and breast cancer risk has been established for 11 genes, only alterations in BRCA1, BRCA2, TP53 and PALB2 have been reported in Asian populations.
|
26757417 |
2016 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained.
|
23300655 |
2012 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Among them, PALB2 clearly emerges as the third breast cancer susceptibility gene.
|
22505525 |
2011 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
|
18302019 |
2009 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
As other BRCA1/2 functionally related DNA repair genes, such as CHEK2 and PALB2, BRIP1 is considered a moderate-penetrance BC susceptibility gene.
|
21165771 |
2011 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
|
28678401 |
2017 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Assessment of PALB2 as a candidate melanoma susceptibility gene.
|
24949998 |
2014 |
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 |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |