Showing posts with label variances. Show all posts
Showing posts with label variances. Show all posts
Friday, July 09, 2010
Genetic Variation in TYMS in the One-Carbon Transfer Pathway Is Associated with Ovarian Carcinoma Types in the Ovarian Cancer Association Consortium — Cancer Epidemiology, Biomarkers & Prevention
Conclusions: TYMS rs495139 may be associated with a differential risk of ovarian carcinoma types, indicating the importance of accurate histopathologic classification.
Note: (abstract) mucinous as opposed to negative for other cell types.
add your opinions
genetic variation
,
TYMS rs495139
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variances
Wednesday, May 12, 2010
Clinical relevance of rare germline sequence variants in cancer genes
Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models.
Abstract
Multifactorial models developed for BRCA1/2 variant classification have proved very useful for delineating BRCA1/2 variants associated with very high risk of cancer, or with little clinical significance. Recent linkage of this quantitative assessment of risk to clinical management guidelines has provided a basis to standardize variant reporting, variant classification and management of families with such variants, and can theoretically be applied to any disease gene. As proof of principle, the multifactorial approach already shows great promise for application to the evaluation of mismatch repair gene variants identified in families with suspected Lynch syndrome. However there is need to be cautious of the noted limitations and caveats of the current model, some of which may be exacerbated by differences in ascertainment and biological pathways to disease for different cancer syndromes.
add your opinions
BRCA
,
clinical
,
Lynch Syndrome
,
management
,
relevance
,
variances
,
variants
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