|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer.
|
31636395 |
2020 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Results Thirty-three (3.9%; 95% CI, 3.0% to 5.8%) of 854 patients with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (12 patients), ATM (10 patients), BRCA1 (3 patients), PALB2 (2 patients), MLH1 (2 patients), CDKN2A (1 patient), and TP53 (1 patient).
|
28767289 |
2017 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The PALB2 509_510delGA and 172_175delTTGT mutations combined were seen in 2 (0.52%) unselected cases of PaCa and in 8 (0.20%) of 4,000 controls (OR: 2.61, p = 0.49).
|
27038244 |
2016 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PALB2 gene are responsible for a small but significant percentage of cancer risks in familial breast and pancreatic cancer families.
|
25542327 |
2015 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The proband carrier of c.3047T>C (p.F1016S) showed two breast cancer cases, two ovarian cancer cases and one pancreatic cancer in mother's family. c.3047T>C (p.F1016S) and c.*146A>G should be considered PALB2 UVs even though the genotype-phenotype correlation for these variants remains still unclear.
|
25666743 |
2015 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer.
|
24870022 |
2014 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, a subset of pancreatic cancer is attributable to known inherited cancer predisposition syndromes, including several hereditary breast cancer genes (BRCA1, BRCA2, and PALB2), CDKN2A, hereditary pancreatitis, hereditary nonpolyposis colorectal cancer, and Peutz-Jeghers syndrome.
|
22846737 |
2013 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in PALB2 lead to a familial predisposition to breast and pancreatic cancer or to Fanconi Anemia subtype N. PALB2 performs its tumor suppressor role, at least in part, by supporting homologous recombination-type double strand break repair (HR-DSBR) through physical interactions with BRCA1, BRCA2, and RAD51.
|
23657012 |
2013 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.
|
23935836 |
2013 |
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, PALB2 does not have a major causal role in familial clustering of PC and BC in non-BRCA1/2 families in the Dutch population.
|
22166947 |
2012 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
|
21989927 |
2012 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These consist of high penetrance genes including BRCA2 or PALB2, to more common genetic variation associated with a modest increase risk of pancreatic cancer such as genetic variation at the ABO blood group locus.
|
22162228 |
2012 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, no significant associations were observed between 11 PALB2 tagging SNPs and melanoma risk in 23 melanoma-prone families with CDKN2A mutations or the subset of 11 families with PC or PC-related CDKN2A mutations.
|
21614589 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Routine screening of breast-pancreas cancer families for the presence of PALB2 mutations appears to be low yield.
|
21415078 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This work suggests that inactivation of the PALB2 gene is a determinant of response to DNA damage in pancreatic cancer and a new target for personalizing cancer treatment.
|
21135251 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PALB2 mutation analysis was performed in 110 non-BRCA1/2 cancer patients: (a) 53 ovarian cancer patients from female breast-and/or ovarian cancer families; (b) 45 breast cancer patients with a first or second degree relative with pancreatic cancer; and (c) 12 male breast cancer patients from female breast cancer families.
|
20582465 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
PALB2 heterozygotes were 4-fold more likely to have a male relative with breast cancer (P = 0.0003), 6-fold more likely to have a relative with pancreatic cancer (P = 0.002), and 1.3-fold more likely to have a relative with ovarian cancer (P = 0.18).
|
21285249 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures.
|
21153565 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence rate of PALB2 mutations in a non-BRCA1/2 breast cancer population specifically selected for a family history of pancreatic cancer does not appear to be significantly increased compared to that observed in other breast cancer populations studied thus far.
|
21365267 |
2011 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It subsequently became clear that PALB2 was another Fanconi anemia (FA) gene (FANCN), and that monoallelic PALB2 mutations are associated with increased risk of breast and pancreatic cancer.
|
20858716 |
2010 |
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, PALB2 was reported to be a new pancreatic cancer susceptibility gene as determined by exomic sequencing, as truncating PALB2 mutations were identified in 3 of 96 American patients with familial pancreatic cancer (FPC).
|
20412113 |
2010 |
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role of PALB2 as a susceptibility gene for pancreatic cancer.
|
19264984 |
2009 |
|
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited risk of pancreatic cancer has been associated with mutations in several genes, including BRCA2, CDKN2A (p16), PRSS1, and PALB2.
|
19690177 |
2009 |