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Showing posts with label variants. Show all posts
Showing posts with label variants. Show all posts
Saturday, May 26, 2012

PLoS ONE: The KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Cancer (study of pts with both ovarian and breast cancers)

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Blogger's Note: the other cancers (KRAS mutations) referred to beyond ovarian and breast cancers include references to lung and melano...
Thursday, April 26, 2012

paywalled: Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

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Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. Breast Cancer Res Tre...
Thursday, April 05, 2012

abstract: Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions.

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Blogger's Note: while this article is specific to BRCA 1/2 it also would apply to other genetic syndromes eg. Lynch Syndrome, Peutz - J...
Tuesday, April 03, 2012

abstract: Rare Mutations in XRCC2 Increase the Risk of Breast Cancer.

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 Blogger's Note : see recent post for a null finding XRCC/Lynch Syndrome Rare Mutations in XRCC2 Increase the Risk of Breast Cancer. :...
Sunday, March 25, 2012

open access - Revie: Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers - Journal of Internal Medicine (references to Lynch Syndrome/Familial Melanoma)

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Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers - Journal of Inte...
Wednesday, March 21, 2012

The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors.

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The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors. : Abstract Missense variants discovered during...
Saturday, August 13, 2011

The predicted truncation from a (ovarian) cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex

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Abstract Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes. MMR recognizes and repairs DNA mismat...
Thursday, August 11, 2011

Cancers | Free Full-Text | The Clinical Significance of Unknown Sequence Variants in BRCA Genes

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Wednesday, August 03, 2011

Luteinized Adult Granulosa Cell Tumor-A Series of 9 Cases: Revisiting a Rare Variant of Adult Granulosa Cell Tumor

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Friday, May 06, 2011

abstract: Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects - Intl Jnl of Cancer

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"These variants were identified through denaturing high performance liquid chromatography and subsequent DNA sequencing. In one Lynch...
Sunday, April 24, 2011

LOVD - An Open Source DNA variation database system (eg. genetic testing/unknown clinicial variant/s)

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LOVD stands for L eiden O pen (source) V ariation D atabase. LOVD's purpose : To provide a flexible, freely available tool...
Friday, April 22, 2011

Genetic variants associated with breast-cancer risk : The Lancet Oncology (Steven A Narod)

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Note: register (free) to view
Monday, September 20, 2010

Medical News: BRCA1 Breast Cancer Risk Linked to Other Mutations (more detailed report - Medpage)

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Tuesday, September 07, 2010

NIH expands network focused on how genes affect drug responses, September 7, News Release - National Institutes of Health (NIH)

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"...Spearheaded by the NIH's National Institute of General Medical Sciences (NIGMS) and launched in 2000, the PGRN has already ide...
Wednesday, July 28, 2010

Genetic Risk Score Associated With Breast Cancer Risk; Predictive of Type of Disease

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>“In this large study including 10,306 women with breast cancer and 10,393 without the disease, we confirm that some of the more importa...
Saturday, May 29, 2010

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

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BACKGROUND: Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical s...
Wednesday, May 12, 2010

Clinical relevance of rare germline sequence variants in cancer genes

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Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Abstract Mult...
Saturday, April 03, 2010

Chemotherapy use and risk of bone marrow suppression in a large population-based cohort of older women with breast and ovarian cancer.

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Med Oncol. 2010 Apr 2 Nurgalieva Z , Liu CC , Du XL . Division of Epidemiology and Disease Control, University of Texas School of...
Thursday, March 18, 2010

NEJM -- Performance of Common Genetic Variants in Breast-Cancer Risk Models

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Note : full text is pay-per-view Conclusions The inclusion of newly discovered genetic factors modestly improved the performance of risk m...
Wednesday, March 17, 2010

news article: Another Reason Not to Get Your Genes Scanned (gene variants)

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"Scientists have discovered numerous gene variants that slightly boost the risk of breast cancer, heart disease, and other common illn...