My mother has been fighting cancer for 25 years. She has had five primary cancer
ID: 264594 • Letter: M
Question
My mother has been fighting cancer for 25 years. She has had five primary cancers including uterine, ovarian, breast, lung, and colon. She was tested for the BRCA breast cancer gene and was negative. Further genetic testing found that she had Lynch Syndrome. Lynch Syndrome is primarily considered a colon cancer syndrome, but it has been linked to uterine, ovarian, cervical, stomach, pancreatic, lung, and brain cancer as well. There are three genes which are grouped for Lynch Syndrome - EPCAM, MSH3, and MSH6. EPCAM defect is the most common and most researched. My mom's defect (and mine too unfortunately) is located on the MSH6 gene. the most rare and least studied. It is an insertion mutation where a addition G creates a shift leading to a STOP codon forming too soon. This leads to a truncation at position 227. The truncated gene has lost important information and leads to cellular malfunction and ultimately cancer.
Research another genetic cancer syndrome and what type of mutations are prevalent. Also describe how geneticists believe that defect causes cellular dysfunction leading to cancer. Include at least one credible source other than the textbook.
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My mother has been fighting cancer for 25 years. She has had five primary cancer
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