Chromosome 2 & 3

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CHROMOSOME 2 :

• HNPCC (MSH 2)
• Cysteinuria

CHROMOSOME 3 :

• HNPCC (MLH 1) 
• VHL
• Alkaptonuria

The majority of HNPCC ( hereditary non-polyposis colorectal cancer ) is caused by mutations in one of several mismatch-repair genes:

MSH2, MSH6, and PMS1 on chromosome 2, 

MLH1 on chromosome 3, 

MSH3 on chromosome 5, and 

PMS2 on chromosome 7. 

MSH2 and MLH1 account for the majority of mutations in HNPCC families.

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