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 …

DNA repair pathways as targets for cancer therapy

T Helleday, E Petermann, C Lundin, B Hodgson… - Nature Reviews …, 2008 - nature.com
DNA repair pathways can enable tumour cells to survive DNA damage that is induced by
chemotherapeutic treatments; therefore, inhibitors of specific DNA repair pathways might …

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

C Palles, JB Cazier, KM Howarth, E Domingo… - Nature …, 2013 - nature.com
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer
(CRC) have no detectable germline mutations in the known cancer predisposition genes …

Genomic and epigenetic instability in colorectal cancer pathogenesis

WM Grady, JM Carethers - Gastroenterology, 2008 - Elsevier
Colorectal cancer arises as a consequence of the accumulation of genetic alterations (gene
mutations, gene amplification, and so on) and epigenetic alterations (aberrant DNA …

Role of DNA mismatch repair defects in the pathogenesis of human cancer

P Peltomaki - Journal of clinical oncology, 2003 - ascopubs.org
The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic
stability. In a broad sense, all main functions of the MMR system, including the correction of …

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

H Hampel, W Frankel, J Panescu, J Lockman… - Cancer research, 2006 - AACR
Endometrial cancer is the most common cancer in women with Lynch syndrome. The
identification of individuals with Lynch syndrome is desirable because they can benefit from …

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 …

Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics

K Imai, H Yamamoto - Carcinogenesis, 2008 - academic.oup.com
DNA mismatch repair (MMR) deficiency results in a strong mutator phenotype and high-
frequency microsatellite instability (MSI-H), which are the hallmarks of tumors arising within …

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

RA Barnetson, A Tenesa, SM Farrington… - New England journal …, 2006 - Mass Medical Soc
Background The identification of mutations in germ-line DNA mismatch-repair genes at the
time of diagnosis of colorectal cancer is important in the management of the disease …

Mutations associated with HNPCC predisposition--Update of ICG-HNPCC/INSiGHT mutation database

P Peltomäki, H Vasen - Disease markers, 2004 - content.iospress.com
Abstract In 1994, the International Collaborative Group on Hereditary Nonpolyposis
Colorectal Cancer (ICG-HNPCC) established an international database of mutations …