NDLI: A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

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

A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling

Patient outcomes associated with group and individual genetic counseling formats

Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London

Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma

First degree relatives and familial aggregation of gastric cancer: who to choose for control in case–control studies?

Increased incidence of childhood, prostate and breast cancers in relatives of childhood cancer patients

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

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Content Provider	Springer Nature Link
Author	Schofield, Lyn Grieu, Fabienne Goldblatt, Jack Amanuel, Benhur Iacopetta, Barry
Copyright Year	2011
Abstract	We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged <60 years was an effective first screen to identify individuals with Lynch syndrome (LS). From these findings, MSI and/or immunohistochemical (IHC) screening was recommended for all newly diagnosed CRC patients aged <60 years in Western Australia, regardless of family history of cancer. In the current study we evaluated the utility of routine MSI/IHC screening by diagnostic pathology laboratories for the detection of previously undiagnosed individuals and families with LS. From January 2009 to December 2010, 270 tumours were tested for MSI and for expression of MLH1, PMS2, MSH2 and MSH6 using IHC. Cases showing MSI and/or loss of expression were also tested for the BRAF V600E hotspot mutation. Seventy cases were found to have MSI, of which 25 were excluded from further investigation as possible LS cases due to presence of the BRAF V600E mutation. The remaining 45 “red flag” cases were eligible for germline testing based on their MSI, IHC and BRAF status. From 31 cases tested to date, 15 germline mutations have been found. Thirteen were from individuals not previously recognized as LS and two were untested members from known LS families. Extrapolation of the mutation incidence (15/31, 48%) to all red flag cases (n = 45) suggests that approximately 22 mutation carriers exist in this cohort. This value approximates the number of CRC cases due to LS that could be expected to arise in the Western Australian population over a two-year period (n = 24), assuming that 1% of all CRCs are due to LS. Although further improvements in workflow can be made, our preliminary findings following the implementation of state-wide routine MSI and IHC testing in Western Australia indicate that the majority of LS cases are being identified.
Starting Page	1
Ending Page	6
Page Count	6
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-11-26
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Microsatellite instability Screening Immunohistochemistry Germline mutation Mismatch repair Cancer Research Biomedicine general Human Genetics Epidemiology
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

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

Use of Microsatellite Instability and Immunohistochemistry Testing for the Identification of Individuals at Risk for Lynch Syndrome

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome

Utilizing microsatellite instability and immunohistochemistry to clinically interpret a novel germline mismatch repair mutation of uncertain significance

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Similar Documents

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

Use of Microsatellite Instability and Immunohistochemistry Testing for the Identification of Individuals at Risk for Lynch Syndrome

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome

Utilizing microsatellite instability and immunohistochemistry to clinically interpret a novel germline mismatch repair mutation of uncertain significance

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours