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Showing posts with label MLH1. Show all posts
Showing posts with label MLH1. Show all posts
Wednesday, May 16, 2012

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...
Tuesday, May 01, 2012

paywalled: Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study : The Lancet Oncology

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Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study : The Lancet Oncology Methods "Resections...
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...
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, 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, March 15, 2012

(click on pdf for full paper) 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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Gynecologic Oncology Case Reports | Articles in Press | ScienceDirect.com A Case of Endometrial Cancer in the Context of a BRCA2 Mutati...
Wednesday, March 07, 2012

An American founder mutation in MLH1 (Lynch Syndrome mutation) International Journal of Cancer - Wiley Online Library

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Abstract Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some o...
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

Cancer Risks for the Relatives of Colorectal Cancer Cases with a Methylated MLH1 Promoter Region: Data from the Colorectal Cancer Family Registry

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Blogger's Note : focus on MLH1 ".....The cohort consisted of 3,128 first- and second-degree relatives of the 233 MLH1 -methylated...

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...
Monday, January 16, 2012

open access: Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility - Human Mutation

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Blogger's Note: see references in paper to ovarian cancer; BRAF mutations Epimutation , epimutation meaning , definition of epimutati...
Wednesday, January 11, 2012

open access: Evidence for breast cancer as an integral part of Lynch Syndrome (MLH1/MSH2 - small study/review) - Genes, Chromosomes and Cancer

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"...While early onset, right-sided CRC represents the hallmark cancer of Lynch syndrome (Lynch et al., 1993 ; Lynch and Smyrk, 1996 ; A...
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, April 07, 2011

Upper Urinary Tract Carcinoma in Lynch Syndrome Cases - Lynch et al/J Urology

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Abstract PURPOSE: Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but n...
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 ...
Monday, February 28, 2011

Multiple synchronous primary ovarian malignancies in a patient with a MLH-1 mutation: Impact on potential fertility preservation (MLH1 is one of the Lynch Syndrome genes) including commentary

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" EOC associated with HNPCC syndrome differs compared to sporadic cases with mean age at diagnosis of 42.7 " (Note: Definition...
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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Tuesday, July 27, 2010

Risk and Epidemiological Time Trends of Gastric Cancer in Lynch Syndrome Carriers in The Netherlands

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" Lifetime risk of developing gastric cancer was 8.0% in males vs 5.3% in females  and 4.8% and 9% for MLH1 and MSH2 carriers, res...