The BRCA2 polymorphic stop codon: stuff or nonsense?

BackgroundDespite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer.MethodsWe have noticed multiple co-occurrences of the BRCA2 c.9976A>T variant with the pathogenic BRC...

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Veröffentlicht in:	Journal of medical genetics Jg. 52; H. 9; S. 642 - 645
Hauptverfasser:	Higgs, J E, Harkness, E F, Bowers, N L, Howard, E, Wallace, A J, Lalloo, F, Newman, W G, Evans, D G
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England BMJ Publishing Group LTD 01.09.2015
Schlagworte:	Breast cancer Breast Neoplasms - genetics Codon, Terminator Esophageal cancer Esophageal Neoplasms - genetics Europe Female Frameshift Mutation Genes, BRCA2 Genetic Predisposition to Disease Humans Lung cancer Lung Neoplasms - genetics Male Mutation Ovarian cancer Pancreatic cancer Pancreatic Neoplasms - genetics Polymorphism, Single Nucleotide Risk assessment Europe England United Kingdom > UK Germany Finland Cancer: oesophageal BRCA2 polymorphic stop codon Cancer: breast Cancer: pancreatic Cancer: lung
ISSN:	0022-2593, 1468-6244
Online-Zugang:	Volltext
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