Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation.
|
15264268 |
2004 |
Malignant neoplasm of pancreas
|
0.600 |
Biomarker
|
disease |
BEFREE |
Given the dismal prognosis of PC, with the only current hope for survival being through surgical extirpation of the pancreas prior to metastasis, it is prudent that we realize the potential predisposition toward PC via BRCA1, in the hope of early diagnosis and prevention.
|
15796958 |
2005 |
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 |
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 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of pancreas
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women.
|
12237281 |
2002 |
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 |
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 |
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 |
The purpose of the study was to assess the relationship between BRCA1 gene mutation and pancreatic cancer in Polish population.
|
19140568 |
2008 |
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 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer.
|
9134530 |
1997 |
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 |
Biomarker
|
disease |
BEFREE |
Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.
|
14531499 |
2003 |