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Showing posts with label MSH6. Show all posts
Showing posts with label MSH6. Show all posts
Wednesday, May 16, 2012

paywalled: Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients - Kantelinen - Human Mutation - Wiley Online Library

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Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients - Kantelinen - Human Mutation Abstra...

American Society for Clinical Pathology: Molecular Testing in Colorectal Cancer (Lynch Syndrome/MLH1, MSH2, MSH6, PMS2/MSI-H/KRAS/BRAF.....)

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Blogger's Note : focus (obviously) on colorectal cancer, however, the cancer spectrum of Lynch Syndrome is noted in this paper as well a...
Saturday, April 21, 2012

abstract: Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

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Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature. Hum Pathol. 2012 Apr 1...
Saturday, April 14, 2012

open access: Gynecologic Oncology Case Reports - A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome

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ScienceDirect.com - Gynecologic Oncology Case Reports - A case of endometrial cancer in the context of a BRCA2 mutation and double heterozyg...
Friday, April 06, 2012

abstract: Uroepithelial (bladder/ureter) and kidney carcinoma in Lynch syndrome (MSH2)

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Uroepithelial and kidney carcinoma in Lynch syndrome [Fam Cancer. 2012] - PubMed - NCBI   Fam Cancer. 2012 Apr 4 Abstract Increase...
Saturday, March 17, 2012

abstract: (Lynch Syndrome) Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study [Epidemiology] multi-national study

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 Blogger's Note: some stats deleted for ease of reading, see abstract (or paid subscription for full details; interesting stat on femal...
Thursday, February 09, 2012

open access: BMC Cancer - Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries (Lynch Syndrome)

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 Background Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2–5% of...
Friday, February 03, 2012

abstract - Identification of Cancer Patients with Lynch Syndrome: Clinically Significant Discordances and Problems in Tissue-Based Mismatch Repair Testing

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Tuesday, January 17, 2012

abstract: Synchronous gynecologic malignancy and preliminary results of Lynch syndrome (Korean women)

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METHODS: Thirty six women with synchronous gynecologic tumors of endometrial and ovarian cancer were identified among patients being tre...
Wednesday, January 11, 2012

The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer

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Abstract The genetic basis for gastric and pancreatic cancer is largely undetermined. These cancers are overrepresented in heredita...
Sunday, June 05, 2011

MLH1/MSH2/MSH6 (Lynch Syndrome) Study Identifies Genetic Mutations Associated With Cancer Risk For Hereditary Cancer Syndrome - media

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"The researchers found significant differences in estimated cumulative cancer risk between the 3 mutated genes......" "This...
Thursday, May 26, 2011

MSH6 - Defects in MSH6 are the cause of (Lynch Syndrome) hereditary non-polyposis colorectal cancer type 5 (HNPCDNA mismatch repair protein Msh6 - Homo sapiens (Human)

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Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [ MIM : 600678 ]. Mutations in more than one ge...
Sunday, April 24, 2011

abstract: Familial Cancer, A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathological one

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Abstract Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6 , and PMS2 predispose to Lynch syndrome ...
Sunday, March 13, 2011

abstract: Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors (endometrioid/clear cell cell types) MSH2 MSH6 MLH1

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Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Abstract OBJECTIVE: Heredity is a ...
Saturday, February 26, 2011

full free access: (2010) MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

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Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2 . It is assumed...
Wednesday, February 23, 2011

abstract: Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy

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Tuesday, February 01, 2011

abstract: The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history (Lynch Syndrome)

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Saturday, September 18, 2010

The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients (study number 289 patients)

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Note: MSH2/MSH6 are 2 of the Lynch Syndrome genes Objectives The genes associated with familial Endometrial Cancer (EC) are largely unk...
Wednesday, August 04, 2010

Low Frequency of Lynch Sydrome among Young Patients with Non-Familial Colorectal Cancer

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Note : "young" referred to as those less than 50 yrs age
Tuesday, June 29, 2010

abstract/free full access: Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers -- Sjursen et al. -- Journal of Medical Genetics

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Conclusion: Amsterdam criteria and each of the Bethesda criteria were inadequate for identifying MSH6 mutation-carrying kindreds. MSH6 ...