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Showing posts with label unclassified variants. Show all posts
Showing posts with label unclassified variants. Show all posts
Sunday, February 12, 2012

abstract: Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

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"Women who carry a pathogenic mutation in BRCA1 or BRCA2 have high risks of developing breast and ovarian cancers. The functional eff...
Wednesday, September 22, 2010

A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results

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"... Unclassified-variants were most frequently misinterpreted by probands and relatives, and had the largest differences between pro...
Wednesday, September 08, 2010

Germline Genetic Variation, Cancer Outcome, and Pharmacogenetics — JCO

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Abstract "Studies of the role of germline or inherited genetic variation on cancer outcome can fall into three distinct categories. F...
Thursday, August 26, 2010

New Whitehead Fellow on the Hunt for Rare Genetic Mutations

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New Whitehead Fellow on the Hunt for Rare Genetic Mutations "As Whitehead Institute’s newest Fellow, Yaniv Erlich comes to Cambridge ...
Thursday, August 19, 2010

full free access: Preparing for a Consumer-Driven Genomic Age Health Policy and Reform

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"Advances in genomic technologies permit the simultaneous analysis of millions of variants across the genome and may soon allow for mea...
Saturday, August 14, 2010

Expert Opinion on Medical Diagnostics - KRAS mutations - Summary

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What the reader will gain: KRAS mutations in mCRC and NSCLC primary tumors predict resistance to EGFR-targeted therapy. In pancreatic cance...
Tuesday, June 08, 2010

Low-Penetrance Susceptibility Variants in Familial Colorectal Cancer — Cancer Epidemiology, Biomarkers & Prevention

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Thursday, June 03, 2010

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA 1 by Structural and Functional Assays

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Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays. Lee MS, Green R, Marsillac ...

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements -- Gaildrat et al. 47 (6): 398 -- Journal of Medical Genetics

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Blogger's Note: in plain english - many patients who have undergone genetic testing show test results of 'unknown variants' or ...