Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Retrospective studies suggest a survival benefit when platinum-based chemotherapy is administered to patients with pancreatic cancer harbouring a germline mutation in BRCA1, BRCA2 or PALB2 (mut-positive PDAC).
|
31787751 |
2020 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer.
|
31787750 |
2020 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Olaparib is a PARP inhibitor (PARPi).For patients bearing BRCA1 or BRCA2 mutations, olaparib is approved to treat ovarian cancer and in clinical trials to treat breast and pancreatic cancers.
|
30660828 |
2019 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The multicenter surveillance program included asymptomatic HRIs with familial (FPC) or genetic frailty (GS: BRCA1/2, p16/CDKN2A, STK11/LKB1or PRSS1, mutated genes) predisposition to PC.
|
30538291 |
2019 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, families with a positive history of PC and patients with BRCA 1 or 2 mutations should be monitored.
|
31118690 |
2019 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
BEFREE |
Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.
|
29441441 |
2018 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Comparing 3030 case patients with pancreatic cancer (43.2% female; 95.6% non-Hispanic white; mean age at diagnosis, 65.3 [SD, 10.7] years) with reference controls, significant associations were observed between pancreatic cancer and mutations in CDKN2A (0.3% of cases and 0.02% of controls; odds ratio [OR], 12.33; 95% CI, 5.43-25.61); TP53 (0.2% of cases and 0.02% of controls; OR, 6.70; 95% CI, 2.52-14.95); MLH1 (0.13% of cases and 0.02% of controls; OR, 6.66; 95% CI, 1.94-17.53); BRCA2 (1.9% of cases and 0.3% of controls; OR, 6.20; 95% CI, 4.62-8.17); ATM (2.3% of cases and 0.37% of controls; OR, 5.71; 95% CI, 4.38-7.33); and BRCA1 (0.6% of cases and 0.2% of controls; OR, 2.58; 95% CI, 1.54-4.05).
|
29922827 |
2018 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRCA1/2 genes are the most commonly mutated pancreatic cancer susceptibility genes that should be considered in all pancreatic cancer cases with young age at onset or a family history of cancer.
|
29940740 |
2018 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found rs1799966 on BRCA1 was associated with poor prognosis of pancreatic cancer patients with hazard ratio being 1.23 (95% CI: 1.09-1.40, P = 0.0010).
|
28415599 |
2017 |
Malignant neoplasm of pancreas
|
0.600 |
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 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
BEFREE |
BRCA1 was found to have the same association with PC as BRCA2, which appears unique to our population.
|
26727920 |
2016 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic cancer with a BRCA1/2 mutation is a small subgroup with a promising therapeutic strategy.
|
26402249 |
2015 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The SIR for all BRCA1/2 mutation carriers compared with the rates in the general population were elevated for pancreatic cancer [2.97 (95 % CI 1.83-4.29)] and breast cancer [16.44 (95 % CI 9.65-26.24)].
|
25788227 |
2015 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Targeting defects in the DNA repair machinery of neoplastic cells, for example, those due to inactivating BRCA1 and/or BRCA2 mutations, has been used for developing new therapies in certain types of breast, ovarian and pancreatic cancers.
|
26511885 |
2015 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
CTD_human |
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.
|
26098869 |
2015 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
|
24737347 |
2014 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
BEFREE |
Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%.
|
23935836 |
2013 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
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 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most important genes with variants increasing risk for pancreatic cancer include BRCA1, BRCA2, PALB2, ATM, CDKN2A, APC, MLH1, MSH2, MSH6, PMS2, PRSS1, and STK11.
|
23187834 |
2013 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA1 and BRCA2 are associated with an increased risk of pancreatic cancer.
|
23456555 |
2013 |
Malignant neoplasm of pancreas
|
0.600 |
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 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A clinical database review (2000-2009) identified 211 Ashkenazi Jewish (AJ) BC probands who 1) underwent BRCA1/2 mutation analysis by full gene sequencing or directed testing for Ashkenazi founder mutations (BRCA1: 185delAG and 5382insC; BRCA2: 6174delT) and 2) had a FH of PC in a first-, second-, or third-degree relative.
|
21598239 |
2012 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As it is well known that the prevalence of gene mutations varies between different populations, we studied the prevalence of PALB2 mutations in a Dutch cohort of non-BRCA1/2 familial PC (FPC) families and in non-BRCA1/2 familial BC (FBC) families with at least one PC case.
|
22166947 |
2012 |
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We also reviewed the pedigrees of 8140 pedigrees with a BRCA1 or a BRCA2 mutation for those with a case of pancreatic cancer.
|
23099806 |
2012 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
BEFREE |
PALB2 mutation analysis was performed in 94 non-BRCA1/2 breast cancer patients with a personal or family history of pancreatic cancer.
|
21365267 |
2011 |