scholarly journals Primary Melanoma Tumors from CDKN2A Mutation Carriers Do Not Belong to a Distinct Molecular Subclass

2014 ◽  
Vol 134 (12) ◽  
pp. 3000-3003 ◽  
Author(s):  
Johan Staaf ◽  
Katja Harbst ◽  
Martin Lauss ◽  
Markus Ringnér ◽  
Anna Måsbäck ◽  
...  
Keyword(s):  
Primary Melanoma ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
Molecular Subclass

scholarly journals Risk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers

2012 ◽  
Vol 104 (12) ◽  
pp. 953-956 ◽  
Author(s):  
Bhramar Mukherjee ◽  
John Oliver DeLancey ◽  
Leon Raskin ◽  
Jessica Everett ◽  
Joanne Jeter ◽  
...  
Keyword(s):  
First Degree Relatives ◽  
Cdkn2a Mutation ◽  
Mutation Carriers

scholarly journals Failure to Detect Differences in Proliferation Status of Nevi from CDKN2A Mutation Carriers and Non-Carriers

2002 ◽  
Vol 118 (2) ◽  
pp. 386-387 ◽  
Author(s):  
Scott R. Florell ◽  
Kenneth M. Boucher ◽  
Joseph A. Holden ◽  
Laurence J. Meyer ◽  
Wolfram E. Samlowski ◽  
...  
Keyword(s):  
Cdkn2a Mutation ◽  
Mutation Carriers

Exploring a possible relationship of germline CDKN2A mutations with breast cancer in a multigene panel cohort.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e23218-e23218 ◽  
Author(s):  
Darling J Horcasitas ◽  
Holly LaDuca ◽  
Amal Yussuf ◽  
Ginger Chisholm ◽  
Jonah R Chavez ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Pancreatic Cancer ◽  
Family History ◽  
Breast Cancer Diagnosis ◽  
Case Control ◽  
Control Analysis ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
History Of ◽  
Relationship Of

e23218 Background: Germline mutations in CDKN2A have been known to increase the risk of melanoma and pancreatic cancer compared to the general population. With the advent of multi-gene panels, individuals who may not have melanoma or pancreatic cancer are undergoing CDKN2A analysis. Previous studies in homogenous populations have suggested that breast cancer risks may also be increased in CDKN2A. This study aims to further evaluate a possible relationship of CDKN2A mutations with breast cancer through a series of case-control comparisons. Methods: Clinical histories and molecular results were retrospectively reviewed for patients undergoing CDKN2A analysis as part of two diagnostic pan-cancer panels at a single laboratory to ascertain CDKN2A mutation carriers (n = 104) and patients negative for all genes analyzed (n = 20,280). Patients with a personal and/or family history (1st and 2nd degree relatives) of pancreatic cancer and/or melanoma were excluded from case-control analysis. Results: The majority of CDKN2A mutation carriers (82.6%, n = 86/104) had a personal history of cancer documented on the test requisition form. The most common cancers were breast (n = 38, 52.8%), melanoma (n = 37, 43.0%) and pancreatic (n = 6, 7.1%). The average age of breast cancer diagnosis in this cohort was 49.3 years (range 25-84). Family history of breast, melanoma, and/or pancreatic cancer was reported for 54.9%, 46.1%, and 34.3% of CDKN2A mutation carriers, respectively. Females with breast cancer were not more likely to test positive for a CDKN2A mutation than females with cancer other than breast (OR = 0.84, p = 0.79) or unaffected females (OR = 1.02, p = 1). Conclusions: Although CDKN2A mutations were not significantly associated with breast cancer in this cohort, these findings do not necessarily rule out an association of CDKN2A mutations with breast cancer, particularly if risks are moderate or if genotype-phenotype correlations exist. Additional studies involving breast cancer cases unselected for age and family history and/or longitudinal studies of CDKN2A carriers are needed to better understand the relationship between CDKN2A and breast cancer risk.

Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype

2010 ◽  
Vol 20 (4) ◽  
pp. 266-272 ◽  
Author(s):  
Kari Nielsen ◽  
Katja Harbst ◽  
Anna Måsbäck ◽  
Göran Jönsson ◽  
Åke Borg ◽  
...  
Keyword(s):  
Cdkn2a Mutation ◽  
Mutation Carriers

scholarly journals Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers

2018 ◽  
Vol 310 (10) ◽  
pp. 769-784 ◽  
Author(s):  
Laura Cristina Gironi ◽  
Enrico Colombo ◽  
Barbara Pasini ◽  
Roberto Giorgione ◽  
Pamela Farinelli ◽  
...  
Keyword(s):  
Histological Features ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
New Evidence

scholarly journals 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

2019 ◽  
Vol 18 (4) ◽  
pp. 439-444
Author(s):  
E. Christodoulou ◽  
M. Visser ◽  
T. P. Potjer ◽  
N. van der Stoep ◽  
M. Rodríguez-Girondo ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Risk ◽  
Genetic Modifier ◽  
Cdkn2a Mutation ◽  
Mutation Carriers

scholarly journals Lifetime Risk of Melanoma in CDKN2A Mutation Carriers in a Population-Based Sample

2005 ◽  
Vol 97 (20) ◽  
pp. 1507-1515 ◽  
Author(s):  
Colin B. Begg ◽  
Irene Orlow ◽  
Amanda J. Hummer ◽  
Bruce K. Armstrong ◽  
Anne Kricker ◽  
...  
Keyword(s):  
Population Based ◽  
Lifetime Risk ◽  
Cdkn2a Mutation ◽  
Mutation Carriers

scholarly journals Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers

2016 ◽  
Vol 34 (17) ◽  
pp. 2010-2019 ◽  
Author(s):  
Hans Vasen ◽  
Isaura Ibrahim ◽  
Carmen Guillen Ponce ◽  
Emily P. Slater ◽  
Elvira Matthäi ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Mutation Carrier ◽  
Early Stage ◽  
Brca2 Mutation ◽  
Risk Groups ◽  
Brca2 Mutation Carrier ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
Palb2 Mutation

Purpose Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis. Hereditary factors play a role in the development of PDAC in 3% to 5% of all patients. Surveillance of high-risk groups, may facilitate detection of PDAC at an early stage. The aim of this study was to assess whether surveillance aids detection of early-stage PDAC or precursor lesions (PRLs) and improves the prognosis. Patients and Methods Screening outcomes were collected from three European centers that conduct prospective screening in high-risk groups including families with clustering of PDAC (familial pancreatic cancer [FPC]) or families with a gene defect that predisposes to PDAC. The surveillance program consisted of annual magnetic resonance imaging, magnetic resonance cholangiopancreatography, and/or endoscopic ultrasound. Results Four hundred eleven asymptomatic individuals participated in the surveillance programs, including 178 CDKN2A mutation carriers, 214 individuals with FPC, and 19 BRCA1/2 or PALB2 mutation carriers. PDAC was detected in 13 (7.3%) of 178 CDKN2A mutation carriers. The resection rate was 75%, and the 5-year survival rate was 24%. Two CDKN2A mutation carriers (1%) underwent surgical resection for low-risk PRL. Two individuals (0.9%) in the FPC cohort had a pancreatic tumor, including one advanced PDAC and one early grade 2 neuroendocrine tumor. Thirteen individuals with FPC (6.1%) underwent surgical resection for a suspected PRL, but only four (1.9%) had high-risk lesions (ie, high-grade intraductal papillary mucinous neoplasms or grade 3 pancreatic intraepithelial neoplasms). One BRCA2 mutation carrier was found to have PDAC, and another BRCA2 mutation carrier and a PALB2 mutation carrier underwent surgery and were found to have low-risk PRL. No serious complications occurred as consequence of the program. Conclusion Surveillance of CDNK2A mutation carriers is relatively successful, detecting most PDACs at a resectable stage. The benefit of surveillance in families with FPC is less evident.

scholarly journals Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

2011 ◽  
Vol 48 (4) ◽  
pp. 266-272 ◽  
Author(s):  
A. E. Cust ◽  
M. Harland ◽  
E. Makalic ◽  
D. Schmidt ◽  
J. G. Dowty ◽  
...  
Keyword(s):  
Population Based ◽  
Melanoma Risk ◽  
Cdkn2a Mutation ◽  
Mutation Carriers ◽  
The Uk
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