Milestones of Lynch syndrome: 1895–2015

HT Lynch, CL Snyder, TG Shaw, CD Heinen… - Nature Reviews …, 2015 - nature.com
Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer
condition, is characterized by the predisposition to a spectrum of cancers, primarily …

Microsatellite instability in colorectal cancer

CR Boland, A Goel - Gastroenterology, 2010 - Elsevier
Microsatellite instability (MSI) is a hypermutable phenotype caused by the loss of DNA
mismatch repair activity. MSI is detected in about 15% of all colorectal cancers; 3% are of …

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

A Umar, CR Boland, JP Terdiman… - Journal of the …, 2004 - academic.oup.com
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a
common autosomal dominant syndrome characterized by early age at onset, neoplastic …

Hereditary colorectal cancer

HT Lynch, A De la Chapelle - New England Journal of Medicine, 2003 - Mass Medical Soc
Colorectal cancers among patients with a familial risk of this disorder account for
approximately one of five cases of this disease. Many cases can be prevented by the …

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

JP Schouten, CJ McElgunn, R Waaijer… - Nucleic acids …, 2002 - academic.oup.com
We describe a new method for relative quantification of 40 different DNA sequences in an
easy to perform reaction requiring only 20 ng of human DNA. Applications shown of this …

Genetic susceptibility to non-polyposis colorectal cancer

HT Lynch, A De la Chapelle - Journal of medical genetics, 1999 - jmg.bmj.com
Familial colorectal cancer (CRC) is a major public health problem by virtue of its relatively
high frequency. Some 15-20% of all CRCs are familial. Among these, familial adenomatous …

Highly penetrant hereditary cancer syndromes

R Nagy, K Sweet, C Eng - Oncogene, 2004 - nature.com
The past two decades have brought many important advances in our understanding of the
hereditary susceptibility to cancer. Approximately 5–10% of all cancers are inherited, the …

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

R Salovaara, A Loukola, P Kristo… - Journal of Clinical …, 2000 - ascopubs.org
PURPOSE: Cancer morbidity and mortality can be dramatically reduced by colonoscopic
screening of individuals with the hereditary nonpolyposis colorectal cancer (HNPCC) …

[HTML][HTML] Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management

HT Lynch, MJ Casey, CL Snyder, C Bewtra, JF Lynch… - Molecular …, 2009 - Elsevier
Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this
disease during 2009. During this same time, over 15,000 will die from malignancy ascribed …

[HTML][HTML] Relevance, pathogenesis, and testing algorithm for mismatch repair–defective colorectal carcinomas: a report of the association for molecular pathology

WK Funkhouser Jr, IM Lubin, FA Monzon… - The Journal of Molecular …, 2012 - Elsevier
Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of
microsatellite instability (MSI), occur in approximately 15% of all colorectal carcinomas …