Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour …

MT Parsons, DD Buchanan, B Thompson… - Journal of medical …, 2012 - jmg.bmj.com
Colorectal cancer (CRC) that demonstrates microsatellite instability (MSI) is caused by either
germline mismatch repair (MMR) gene mutations, or 'sporadic'somatic tumour MLH1 …

Risk prediction models for colorectal cancer: a review

AK Win, RJ MacInnis, JL Hopper, MA Jenkins - … epidemiology, biomarkers & …, 2012 - AACR
Risk prediction models are important to identify individuals at high risk of developing the
disease who can then be offered individually tailored clinical management, targeted …

Risks of less common cancers in proven mutation carriers with lynch syndrome

C Engel, M Loeffler, V Steinke, N Rahner… - Journal of Clinical …, 2012 - ascopubs.org
Purpose Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but
also at an elevated risk for other less common cancers. The purpose of this retrospective …

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

AK Win, JP Young, NM Lindor, KM Tucker… - Journal of clinical …, 2012 - ascopubs.org
Purpose To determine whether cancer risks for carriers and noncarriers from families with a
mismatch repair (MMR) gene mutation are increased above the risks of the general …

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

AK Win, NM Lindor, JP Young… - Journal of the …, 2012 - academic.oup.com
Background Lynch syndrome is a highly penetrant cancer predisposition syndrome caused
by germline mutations in DNA mismatch repair (MMR) genes. We estimated the risks of …

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

MG Dunlop, SE Dobbins, SM Farrington, AM Jones… - Nature …, 2012 - nature.com
We performed a meta-analysis of five genome-wide association studies to identify common
variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 …

Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative …

SM Weissman, R Burt, J Church, S Erdman… - Journal of genetic …, 2012 - Springer
Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work
up that includes taking a detailed family history and a combination of various genetic and …

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting

CA Bellcross, SR Bedrosian, E Daniels… - Genetics in …, 2012 - nature.com
Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for
approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence …

[HTML][HTML] Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series …

MD Walsh, DD Buchanan, SA Pearson… - Modern Pathology, 2012 - Elsevier
Debate continues as to the usefulness of assessing adenomas for loss of mismatch repair
protein expression to identify individuals with suspected Lynch syndrome. We tested 109 …

Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation‐positive patients with endometrial cancer encountered in the …

P Ryan, AM Mulligan, M Aronson, SE Ferguson… - Cancer, 2012 - Wiley Online Library
BACKGROUND: Endometrial cancer (EC) is the most common extraintestinal malignancy in
Lynch syndrome (LS) and often is the sentinel malignancy, yet there is no consensus …