|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although it is well known that CDKN2A mutations confer an increased risk for melanoma and pancreatic carcinoma, the association with an increased risk for nerve sheath tumours and other tumour types is under-recognized.
|
26876133 |
2016 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Some CDKN2A mutations have been associated not only with melanoma but also with increased risk of other malignancies--most notably pancreatic carcinoma.
|
20687502 |
2010 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Using LD-PCR, mutations in p53 and/or p16 were found in the pancreatic juice of 12 of 20 individuals with pancreatic cancer compared to only 1 of 8 patients with chronic pancreatitis, 0 of 8 individuals without evidence of pancreatic disease (p<0.02).
|
17106238 |
2006 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we observed a novel association in a pleiotropic region that has been found to be of key relevance in the susceptibility to various types of cancer and diabetes suggesting that the CDKN2A/B locus could represent a genetic link between diabetes and pancreatic cancer risk.
|
27486979 |
2016 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We investigated the association between INK4/ARF alterations and the occurrence of pancreatic cancer in MF and in sporadic pancreatic cancer (SPC) patients.
|
14679123 |
2004 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The p16-Leiden germline variant in the CDKN2A gene is associated with a high risk of melanoma and pancreatic cancer.
|
25227142 |
2015 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CDKN2A mutation carriers were more likely to have a family history of pancreatic cancer (P=0.003) or melanoma (P=0.03), and a personal history of melanoma (P=0.01).
|
21150883 |
2011 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The frequency of somatic TP53 and p16INK4a mutations in pancreatic cancer is similar in patients with and without multiple primaries.
|
11075991 |
2000 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The results strongly suggest that CDKN2A methylation is correlated with an increased risk of pancreatic cancer.
|
26338139 |
2015 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases.
|
29543703 |
2018 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer).
|
21507037 |
2011 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The incidence of p16 mutations was 2 (9%) in 22 cases of pancreatic carcinoma with strongly positive staining, 4 (17%) in 24 with weakly positive staining, and 3 (21%) in 14 with negative staining.
|
12898359 |
2003 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic carcinoma in carriers of a specific 19 base pair deletion of CDKN2A/p16 (p16-leiden).
|
14506146 |
2003 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although early age at melanoma diagnosis and occurrence of multiple primary melanoma in 1 or more patient were significantly associated with the risk of a CDKN2A mutation in F2 families, early age at melanoma diagnosis and occurrence of pancreatic cancer in a family were significantly associated with CDKN2A mutations in F3+ families.
|
22841127 |
2012 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
There was, however, a statistically significant difference in age-adjusted median numbers of nevi (P =.004), and CMM case subjects from CDKN2A families without pancreatic cancer had greater numbers of nevi.
|
10861313 |
2000 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA2 have been shown to predispose to both breast and pancreatic cancer, germline mutations in p16 to melanoma and pancreatic cancer (the FAMMM syndrome), and genetic mutations in STK11/LKB1 to pancreatic cancer in patients with the Peutz-Jeghers Syndrome (PJS).
|
10436789 |
1999 |
|
Pancreatic carcinoma
|
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 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Previous small scale studies reported that deleterious BRCA2 and CDKN2a germline mutations contribute to a subset of families with inherited pancreatic cancer.
|
20195775 |
2010 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic cancer is associated with mutations in the tumor suppressor gene cyclin-dependent kinase inhibitor 2A (p16(INK4A) ), a regulator of the cell cycle and apoptosis.
|
20665497 |
2010 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.
|
31203567 |
2019 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We observed a significantly elevated rate of pancreatic cancer in one of four families with a deleterious CDKN2A mutation.
|
16397522 |
2006 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We genotyped 148 Caucasian patients with a diagnosis of pancreatic cancer for the Aurora-A and p16 polymorphisms using pyrosequencing.
|
17505013 |
2007 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A group I intron ribozyme was designed to trans-splice the 2 base-deleted p16 transcripts with the wild-type sequence in a pancreatic cancer cell line, which originally produced no p16.
|
15336553 |
2004 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations.
|
7666916 |
1995 |
|
Pancreatic carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer.
|
27804060 |
2017 |