1. Characterisation of heterozygous
- Author
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Qing, Wang, Julie, Leclerc, Gaëlle, Bougeard, Sylviane, Olschwang, Stéphanie, Vasseur, Kévin, Cassinari, Denis, Boidin, Cédrick, Lefol, Pierre, Naïbo, Thierry, Frébourg, Marie Pierre, Buisine, and Stéphanie, Baert-Desurmont
- Subjects
Adult ,Male ,Heterozygote ,DNA Methylation ,Middle Aged ,Colorectal Neoplasms, Hereditary Nonpolyposis ,DNA Mismatch Repair ,Biomarkers, Tumor ,Humans ,Female ,Genetic Predisposition to Disease ,Microsatellite Instability ,France ,Genetic Testing ,Colorectal Neoplasms ,Germ-Line Mutation ,Mismatch Repair Endonuclease PMS2 - Abstract
Heterozygous germlineWe report 200Genomic rearrangements account for 18% of alterations. The c.137GT variant was observed in 18% of the patients, but a founder effect could not be clearly identified by haplotype analysis. Among class-4/5 variant carriers, the median age at first tumour onset was 49 years with a predominance of colorectal (80%) and endometrial (8.1%) cancers. Seven patients developed colorectal cancers before the age of 30 with the youngest at the age of 21. Only 6.2% of class-4/5 carriers had a family history fulfilling Amsterdam I/II criteria among patients with available data. Tumours fromOur results provide further insight into the role of the
- Published
- 2019