NDLI: Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Please wait, while we are loading the content...

A prospective study of bowel preparation for colonoscopy with polyethylene glycol-electrolyte solution versus sodium phosphate in Lynch syndrome: a randomized trial

Adequacy of family history taking in ovarian cancer patients: a population-based study

Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases

Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcome

Mutation screening of RAD51C in high-risk breast and ovarian cancer families

Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up

Uroepithelial and kidney carcinoma in Lynch syndrome

The consequences of risk reducing salpingo-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause

Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome

A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer

Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations

Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry

Closing the loop: an interactive action-research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic cancer risk assessment

Microsatellite instability testing in Korean patients with colorectal cancer

Causes of death of mutation carriers in Finnish Lynch syndrome families

Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families

Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

The evolution of personalized cancer genetic counseling in the era of personalized medicine

Familial Cancer : Volume 11, Issue 2, June 2012

Familial Cancer : Volume 11, Issue 1, March 2012

Familial Cancer : Volume 10

Familial Cancer : Volume 9

Familial Cancer : Volume 8

Familial Cancer : Volume 7

Familial Cancer : Volume 6

Familial Cancer : Volume 5

Familial Cancer : Volume 4

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Content Provider	Springer Nature Link
Author	Farrell, Michael P. Hughes, David J. Berry, Ian R. Gallagher, David J. Glogowski, Emily A. Payne, Stewart J. Kennedy, Michael J. Clarke, Róisín M. White, Susan A. Muldoon, Cian B. Macdonald, Fiona Rehal, Pauline Crompton, Danielle Roring, Solvig Duke, Sarah T. McDevitt, Trudi Barton, David E. Hodgson, Shirley V. Green, Andrew J. Daly, Peter A.
Copyright Year	2012
Abstract	Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of the effect of missense and silent variants as deleterious or neutral is challenging. Pre-symptomatic testing for clinical use is not recommended for relatives of individuals with variants classified as ‘of uncertain significance’. These relatives, including non-carriers, are considered at high-risk as long as the contribution of the variant to disease causation cannot be determined. This results in continuing anxiety, and the application of potentially unnecessary screening and prophylactic interventions. We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. The clinical significance of the variant remains unresolved in the literature. Data are presented on cancer incidence within five kindreds with the same germline missense variant in the MLH1 MMR gene. Extensive testing of relevant family members in one kindred, a review of the literature, review of online MMR mutation databases and use of in silico phenotype prediction tools were undertaken to study the significance of this variant. Clinical, histological, immunohistochemical and molecular evidence from these families and other independent clinical and scientific evidence indicates that the MLH1 p.Arg182Gly (c.544A>G) change causes Lynch syndrome and supports reclassification of the variant as pathogenic.
Starting Page	509
Ending Page	518
Page Count	10
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-07-07
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Immunohistochemical analysis Lynch syndrome Microsatellite instability Mismatch repair Muir-Torre syndrome Mutl homolog 1 Variant of uncertain significance Epidemiology Biomedicine general Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability

Microsatellite Instability in Keratoacanthoma

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Screening for Muir-Torre Syndrome Using Mismatch Repair Protein Immunohistochemistry of Sebaceous Neoplasms

A Case of Muir-Torre Syndrome.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Similar Documents

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability

Microsatellite Instability in Keratoacanthoma

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Screening for Muir-Torre Syndrome Using Mismatch Repair Protein Immunohistochemistry of Sebaceous Neoplasms

A Case of Muir-Torre Syndrome.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome