Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022779163> ?p ?o ?g. }
- W2022779163 endingPage "478" @default.
- W2022779163 startingPage "472" @default.
- W2022779163 abstract "Germline mutations in CDKN2A have been reported in pancreatic cancer families, but genetic counseling for pancreatic cancer risk has been limited by lack of information on CDKN2A mutation carriers outside of selected pancreatic or melanoma kindreds. Lymphocyte DNA from consecutive, unselected white non-Hispanic patients with pancreatic adenocarcinoma was used to sequence CDKN2A. Frequencies of mutations that alter the coding of p16INK4 or p14ARF were quantified overall and in subgroups. Penetrance and likelihood of carrying mutations by family history were estimated. Among 1537 cases, 9 (0.6%) carried germline mutations in CDKN2A, including three previously unreported mutations. 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). Among cases who reported having a first-degree relative with pancreatic cancer or melanoma, the carrier proportions were 3.3 and 5.3%, respectively. Penetrance for mutation carriers by age 80 was calculated to be 58% for pancreatic cancer (95% confidence interval (CI) 8–86%), and 39% for melanoma (95% CI 0–80). Among cases who ever smoked cigarettes, the risk for pancreatic cancer was higher for carriers compared with non-carriers (HR 25.8, P=2.1 × 10−13), but among nonsmokers, this comparison did not reach statistical significance. Germline mutations in CDKN2A among unselected pancreatic cancer patients are uncommon, although notably penetrant, especially among smokers. Carriers of germline mutations of CDKN2A should be counseled to avoid tobacco use to decrease risk of pancreatic cancer in addition to taking measures to decrease melanoma risk." @default.
- W2022779163 created "2016-06-24" @default.
- W2022779163 creator A5001261934 @default.
- W2022779163 creator A5006194799 @default.
- W2022779163 creator A5007577734 @default.
- W2022779163 creator A5038929700 @default.
- W2022779163 creator A5048782070 @default.
- W2022779163 creator A5063974773 @default.
- W2022779163 creator A5078869044 @default.
- W2022779163 date "2010-12-08" @default.
- W2022779163 modified "2023-10-18" @default.
- W2022779163 title "Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling" @default.
- W2022779163 cites W1539433458 @default.
- W2022779163 cites W1608415194 @default.
- W2022779163 cites W1632624695 @default.
- W2022779163 cites W1967370147 @default.
- W2022779163 cites W1971307410 @default.
- W2022779163 cites W1971512164 @default.
- W2022779163 cites W1983554886 @default.
- W2022779163 cites W2003108314 @default.
- W2022779163 cites W2007063723 @default.
- W2022779163 cites W2010493387 @default.
- W2022779163 cites W2034070214 @default.
- W2022779163 cites W2044446248 @default.
- W2022779163 cites W2061049951 @default.
- W2022779163 cites W2064040729 @default.
- W2022779163 cites W2066176747 @default.
- W2022779163 cites W2076983043 @default.
- W2022779163 cites W2082738737 @default.
- W2022779163 cites W2083967581 @default.
- W2022779163 cites W2086773265 @default.
- W2022779163 cites W2087791044 @default.
- W2022779163 cites W2088225476 @default.
- W2022779163 cites W2102850127 @default.
- W2022779163 cites W2106621675 @default.
- W2022779163 cites W2108615157 @default.
- W2022779163 cites W2108744104 @default.
- W2022779163 cites W2123178578 @default.
- W2022779163 cites W2126673240 @default.
- W2022779163 cites W2130634070 @default.
- W2022779163 cites W2133282020 @default.
- W2022779163 cites W2163721329 @default.
- W2022779163 cites W2172049434 @default.
- W2022779163 cites W2317559651 @default.
- W2022779163 cites W4293166735 @default.
- W2022779163 doi "https://doi.org/10.1038/ejhg.2010.198" @default.
- W2022779163 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3060321" @default.
- W2022779163 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21150883" @default.
- W2022779163 hasPublicationYear "2010" @default.
- W2022779163 type Work @default.
- W2022779163 sameAs 2022779163 @default.
- W2022779163 citedByCount "110" @default.
- W2022779163 countsByYear W20227791632012 @default.
- W2022779163 countsByYear W20227791632013 @default.
- W2022779163 countsByYear W20227791632014 @default.
- W2022779163 countsByYear W20227791632015 @default.
- W2022779163 countsByYear W20227791632016 @default.
- W2022779163 countsByYear W20227791632017 @default.
- W2022779163 countsByYear W20227791632018 @default.
- W2022779163 countsByYear W20227791632019 @default.
- W2022779163 countsByYear W20227791632020 @default.
- W2022779163 countsByYear W20227791632021 @default.
- W2022779163 countsByYear W20227791632022 @default.
- W2022779163 countsByYear W20227791632023 @default.
- W2022779163 crossrefType "journal-article" @default.
- W2022779163 hasAuthorship W2022779163A5001261934 @default.
- W2022779163 hasAuthorship W2022779163A5006194799 @default.
- W2022779163 hasAuthorship W2022779163A5007577734 @default.
- W2022779163 hasAuthorship W2022779163A5038929700 @default.
- W2022779163 hasAuthorship W2022779163A5048782070 @default.
- W2022779163 hasAuthorship W2022779163A5063974773 @default.
- W2022779163 hasAuthorship W2022779163A5078869044 @default.
- W2022779163 hasBestOaLocation W20227791631 @default.
- W2022779163 hasConcept C104317684 @default.
- W2022779163 hasConcept C121608353 @default.
- W2022779163 hasConcept C126322002 @default.
- W2022779163 hasConcept C127716648 @default.
- W2022779163 hasConcept C13514818 @default.
- W2022779163 hasConcept C143998085 @default.
- W2022779163 hasConcept C200544954 @default.
- W2022779163 hasConcept C2780210213 @default.
- W2022779163 hasConcept C2780265364 @default.
- W2022779163 hasConcept C2781179581 @default.
- W2022779163 hasConcept C501734568 @default.
- W2022779163 hasConcept C502942594 @default.
- W2022779163 hasConcept C54355233 @default.
- W2022779163 hasConcept C71924100 @default.
- W2022779163 hasConcept C86803240 @default.
- W2022779163 hasConceptScore W2022779163C104317684 @default.
- W2022779163 hasConceptScore W2022779163C121608353 @default.
- W2022779163 hasConceptScore W2022779163C126322002 @default.
- W2022779163 hasConceptScore W2022779163C127716648 @default.
- W2022779163 hasConceptScore W2022779163C13514818 @default.
- W2022779163 hasConceptScore W2022779163C143998085 @default.
- W2022779163 hasConceptScore W2022779163C200544954 @default.
- W2022779163 hasConceptScore W2022779163C2780210213 @default.
- W2022779163 hasConceptScore W2022779163C2780265364 @default.
- W2022779163 hasConceptScore W2022779163C2781179581 @default.