Description
The c.367-?_1076+?del deletion variant encompassing exons 3-6 has been previously reported in the literature in at least 3 of 631 proband chromosomes in individuals who either met criteria for Lynch syndrome or had colorectal or endometrial cancer (Becouarn 2005, Grabowski 2005, Kurzawski 2006, Pastrello 2006, Pistorius 2006). In one study, co-segregation with disease and "contiguous exons" by RT/PCR was noted (Kurzawski 2006). This variant was also reported in the HGMD, UMD, MisMatch Repair (Memorial University), and Insight (LOVD) databases. Note, the precise breakpoints for this deletion were not determined. However, the variant is predicted to cause a frameshift and to lead to a premature stop codon. This alteration may result in a truncated or absent protein product and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch syndrome. In summary, based on the above information, this variant meets our criteria to be classified as pathogenic.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | unknown | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
