Progress in heritable skin diseases: Molecular bases and clinical implications

2002 ◽  
Vol 47 (1) ◽  
pp. 91-104 ◽  
Author(s):  
Leena Pulkkinen ◽  
Franziska Ringpfeil ◽  
Jouni Uitto
Keyword(s):  
Skin Diseases ◽  
Clinical Implications ◽  
Heritable Skin Diseases ◽  
Molecular Bases

scholarly journals Age influences on the molecular presentation of tumours

2022 ◽  
Vol 13 (1) ◽  
Author(s):  
Constance H. Li ◽  
Syed Haider ◽  
Paul C. Boutros
Keyword(s):  
Older Patients ◽  
Cancer Epidemiology ◽  
Clinical Implications ◽  
Mutational Signatures ◽  
Driver Genes ◽  
Cancer Driver ◽  
Mutational Landscape ◽  
Damage Repair ◽  
Age Dependent ◽  
Molecular Bases

AbstractCancer is often called a disease of aging. There are numerous ways in which cancer epidemiology and behaviour change with the age of the patient. The molecular bases for these relationships remain largely underexplored. To characterise them, we analyse age-associations in the nuclear and mitochondrial somatic mutational landscape of 20,033 tumours across 35 tumour-types. Age influences both the number of mutations in a tumour (0.077 mutations per megabase per year) and their evolutionary timing. Specific mutational signatures are associated with age, reflecting differences in exogenous and endogenous oncogenic processes such as a greater influence of tobacco use in the tumours of younger patients, but higher activity of DNA damage repair signatures in those of older patients. We find that known cancer driver genes such as CDKN2A and CREBBP are mutated in age-associated frequencies, and these alter the transcriptome and predict for clinical outcomes. These effects are most striking in brain cancers where alterations like SUFU loss and ATRX mutation are age-dependent prognostic biomarkers. Using three cancer datasets, we show that age shapes the somatic mutational landscape of cancer, with clinical implications.

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