MLH1 and MSH2 Deletion/Duplication Test Cost & Procedure

The MLH1/MSH2 Deletion/Duplication test finds MLH1/MSH2 gene mutations. These two genes are crucial for DNA repair. Nonpolyposis colorectal cancer (HNPCC) or Lynch's syndrome is indicated by mutations in these genes.

How do MLH1 and MSH2 function?

• The brief insertion-deletion loops and single base mismatches that occur during DNA replication are repaired by the MLH1, MSH2, and MSH6 proteins.
• Three to five per cent of colon cancer cases are caused by Lynch syndrome, commonly known as Genetic Non-Polyposis Colon Cancer or HNPCC.
• Malignancies associated with Lynch syndrome are characterised by microsatellite instability (MSI), which is caused by germline mutations in any of the four mismatch repair (MMR) genes (MLH1, MSH6, MSH2, PMS2).
• Both sexes are more likely to develop stomach and colon cancers, while women with Lynch syndrome are more likely to develop ovarian and endometrial malignancies. MSI analysis screening is followed by MMR protein immunohistochemistry (IHC) testing as part of the Lynch syndrome testing procedure.
• The putatively altered gene(s) identified by IHC can subsequently be subjected to complete gene sequencing and deletion/duplication analysis to detect germline mutations. (To learn more about MSI and IHC testing, call Client Services at (855) 535-1522.) 90% of instances of Lynch syndrome are caused by MLH1 and MSH2 germline mutations, with MSH6 and PMS2 mutations making up the remainder.

Describe Lynch Syndrome:

• The risk of many different types of cancer is raised by the presence of Lynch syndrome.
• Children inherit this disease from their parents.
• Families with Lynch syndrome experience higher than predicted rates of cancer.
• This could apply to endometrial cancer, colon cancer, and other cancers. Additionally, Lynch syndrome makes tumours develop sooner in life.

Symptoms:

People who have Lynch syndrome might go through:

• Colitis before the age of 50and  a history of having multiple types of cancer
• an early 50s family history of cancer
• a history of Lynch syndrome-related cancers in the family, such as bladder, kidney, stomach, ovarian, or pancreatic cancer.