|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer.
|
31787750 |
2020 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.
|
29441441 |
2018 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
BRCA1 was found to have the same association with PC as BRCA2, which appears unique to our population.
|
26727920 |
2016 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic cancer with a BRCA1/2 mutation is a small subgroup with a promising therapeutic strategy.
|
26402249 |
2015 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
|
24737347 |
2014 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA1 and BRCA2 are associated with an increased risk of pancreatic cancer.
|
23456555 |
2013 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
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 |
|
Pancreatic carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Additionally, mean ages of diagnosis of pancreatic cancer in BRCA1/2 families differ significantly from the SEER mean (P = 0.0014 for BRCA1 and P = 0.011 for BRCA2 by unpaired t-test).
|
18855126 |
2009 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that mutations in the BRCA1 gene are not highly, or even moderately, prevalent in families with a clustering of pancreatic cancer, including pancreatic cancer families who report a family history of breast and/or ovarian cancer.
|
19029836 |
2009 |
|
Pancreatic carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In risk assessment for HBOS, identifying a family history of PC should strongly raise the suspicion of an unrecognized BRCA1/2 mutation.
|
18581219 |
2008 |