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Familial endometrial cancer in female carriers of MSH6 germline mutations
- Source :
- Nature Genetics, 23, 142-144. Nature Publishing Group, Nature Genetics, 23(2), 142-144. Nature Publishing Group, Nature genetics, 23(2), 142-144. Nature Publishing Group
- Publication Year :
- 1999
- Publisher :
- Springer Science and Business Media LLC, 1999.
-
Abstract
- Hereditary non-polyposis colorectal cancer (HNPCC) is a common autosomal dominant condition characterized by early onset colorectal cancer as well as other tumour types at different anatomical sites1. HNPCC tumours often display a high level of genomic instability, characterized by changes in repeat numbers of simple repetitive sequences (microsatellite instability, MSI), which reflects the malfunction of the DNA mismatch repair machinery2, 3. Accordingly, HNPCC was shown to be caused by germline mutations in the DNA mismatch repair genes (MMR) MSH2, MLH1, PMS1, PMS2 and MSH6 (refs 3, 4, 5, 6). So far, more than 220 predisposing mutations have been identified, most in MSH2 and MLH1 and in families complying with the clinical Amsterdam criteria3, 7, 8 (AMS+). Many HNPCC families, however, do not fully comply with these criteria, and in most cases the causative mutations are unknown.
- Subjects :
- Genome instability
Heterozygote
congenital, hereditary, and neonatal diseases and abnormalities
HNPCC
BETA
Biology
MLH1
Germline mutation
SDG 3 - Good Health and Well-being
MISMATCH-REPAIR
Genetics
medicine
PMS2
Humans
neoplasms
Germ-Line Mutation
Family Health
Ovarian Neoplasms
nutritional and metabolic diseases
Microsatellite instability
NONPOLYPOSIS COLORECTAL-CANCER
medicine.disease
GENE
Colorectal Neoplasms, Hereditary Nonpolyposis
digestive system diseases
Endometrial Neoplasms
DNA-Binding Proteins
MSH6
Urinary Bladder Neoplasms
MSH2
CELLS
Cancer research
Female
DNA mismatch repair
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 23
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....febf990bbb40d58ad3016e62ffc9f430