Literature DB >> 15365986

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association.

Joan A Murphy1, Ramiro Barrantes-Reynolds, Rama Kocherlakota, Jeffrey P Bond, Marc S Greenblatt.   

Abstract

In this report, we introduce the CDKN2A Database, an online database of germline and somatic variants of the CDKN2A tumor suppressor gene recorded in human disease through the year 2002, annotated with evolutionary, structural, and functional information. The CDKN2A Database improves upon existing resources by: 1) including both somatic mutations and germline variants, thereby adding the perspective of somatic cell carcinogenesis to that of hereditary cancer predisposition; 2) including information that assists with the interpretation of allelic variants, such as other primary data (sequences, structures, alignments, functional measurements, and literature references) and annotations (extensive text, figures, and a tree-based phylogenetic classification); and 3) providing the information in a format that allows a user to either download the database or to easily manipulate it online. We describe the database structure, content, current uses, and potential implications (http://biodesktop.uvm.edu/perl/p16). Copyright 2004 Wiley-Liss, Inc.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15365986     DOI: 10.1002/humu.20083

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  10 in total

Review 1.  Genetic tests for common diseases: new insights, old concerns.

Authors:  David Melzer; Stuart Hogarth; Katherine Liddell; Tom Ling; Simon Sanderson; Ron L Zimmern
Journal:  BMJ       Date:  2008-03-15

2.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

Review 3.  The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Authors:  Judy Savige; Raymond Dalgleish; Richard Gh Cotton; Johan T den Dunnen; Finlay Macrae; Sue Povey
Journal:  Pediatr Nephrol       Date:  2014-11-11       Impact factor: 3.714

4.  ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Authors:  Amanda B Spurdle; Sue Healey; Andrew Devereau; Frans B L Hogervorst; Alvaro N A Monteiro; Katherine L Nathanson; Paolo Radice; Dominique Stoppa-Lyonnet; Sean Tavtigian; Barbara Wappenschmidt; Fergus J Couch; David E Goldgar
Journal:  Hum Mutat       Date:  2011-11-03       Impact factor: 4.878

5.  CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations.

Authors:  Robert R McWilliams; Eric D Wieben; Kari G Chaffee; Samuel O Antwi; Leon Raskin; Olufunmilayo I Olopade; Donghui Li; W Edward Highsmith; Gerardo Colon-Otero; Lauren G Khanna; Jennifer B Permuth; Janet E Olson; Harold Frucht; Jeanine Genkinger; Wei Zheng; William J Blot; Lang Wu; Luciana L Almada; Martin E Fernandez-Zapico; Hugues Sicotte; Katrina S Pedersen; Gloria M Petersen
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2018-07-23       Impact factor: 4.254

6.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

7.  p16 mutation spectrum in the premalignant condition Barrett's esophagus.

Authors:  Thomas G Paulson; Patricia C Galipeau; Lianjun Xu; Heather D Kissel; Xiaohong Li; Patricia L Blount; Carissa A Sanchez; Robert D Odze; Brian J Reid
Journal:  PLoS One       Date:  2008-11-27       Impact factor: 3.240

8.  A common variant of the p16(INK4a) genetic region is associated with physical function in older people.

Authors:  David Melzer; Timothy M Frayling; Anna Murray; Alison J Hurst; Lorna W Harries; Honglin Song; Kaytee Khaw; Robert Luben; Paul G Surtees; Stefania S Bandinelli; Anna-Maria Corsi; Luigi Ferrucci; Jack M Guralnik; Robert B Wallace; Andrew T Hattersley; Paul D Pharoah
Journal:  Mech Ageing Dev       Date:  2007-03-27       Impact factor: 5.432

9.  Diagnostic value of DNA alteration: loss of heterozygosity or allelic imbalance-promising for molecular staging of prostate cancers.

Authors:  Magdalena Bryś; Monika Migdalska-Sęk; Dorota Pastuszak-Lewandoska; Ewa Forma; Karolina Czarnecka; Daria Domańska; Ewa Nawrot; Jacek Wilkosz; Waldemar Różański; Ewa Brzeziańska
Journal:  Med Oncol       Date:  2013-01-04       Impact factor: 3.064

10.  Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

Authors:  Stefano Volinia; Nicoletta Mascellani; Jlenia Marchesini; Angelo Veronese; Elizabeth Ormondroyd; Hansjuerg Alder; Jeff Palatini; Massimo Negrini; Carlo M Croce
Journal:  PLoS One       Date:  2008-10-10       Impact factor: 3.240

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.