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 …

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 …

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 …

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

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 …

Genetic testing by cancer site: ovary

SM Weissman, SM Weiss, AC Newlin - The Cancer Journal, 2012 - journals.lww.com
Approximately 1 in every 4 to 5 women with a diagnosis of ovarian cancer has a hereditary
gene mutation that is responsible for the development of her cancer. Identifying women at …

Lynch or not Lynch? Is that always a question?

C Colas, F Coulet, M Svrcek, A Collura… - Advances in cancer …, 2012 - Elsevier
The familial cancer syndrome referred to as Lynch I and II was renamed hereditary
nonpolyposis colorectal cancer (HNPCC) only to revert later to Lynch syndrome (LS). LS is …

Genetic testing by cancer site: uterus

MS Daniels - The Cancer Journal, 2012 - journals.lww.com
This review article discusses hereditary cancer predisposition syndromes with uterine
manifestations. Lynch syndrome accounts for 2% to 3% of endometrial cancers. The …

Improved multiplex ligation‐dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 …

A Wernstedt, E Valtorta, F Armelao… - Genes …, 2012 - Wiley Online Library
Heterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one
third of these mutations are genomic deletions. Their detection is complicated by a …