I was talking to a friend about inheritable colon cancer. Most families who inherit an increased risk find that they are encouraged to start getting screened for polyps after age 30 to make sure the pre-cancerous polyps can be removed before they turn into cancer. But, friend was talking about a very different form of inheritable colon cancer that does not cause polyps and is inherited in a dominant fashion. What cancer is he talking about, what gene(s) is mutated, and how is the inheritance dominant? Briefly explain the epidemiology of this cancer and explain the normal function of these gene(s) that are mutated. Then explain why the mutations would cause cancer, and why do they cause predominately colon cancers?
He is talking about Hereditary nonpolyposis colorectal cancer (HNPCC), which is the most common form of hereditary colorectal cancer. This cancer is inherited as an autosomal dominant syndrome. The genes that have been associated with HNPCC are called MLH1, MSH2, MSH6, and PMS2. These genes produce mismatch repair (MMR) proteins.
Mutations in these genes cause defective proteins, that are, unable to repair the mismatches, which further increases mutation that leads to the cancer.
I was talking to a friend about inheritable colon cancer. Most families who inherit an increased...
Consider a spontaneous mutation in the gene HER2, a tumor suppressor involved in cell cycle control Mutations happen at a rate of about 1 error per 109 bases per generation. A spontaneous deleterious mutation must occur in HER2 specifically, and not in another gene. The likelihood that a spontaneous mutation is deleterious and could lead to cancer depends on the number of mutable bases in HER2, the fraction of bases that will affect the function of HER2, and that both...
Part I— Just Bad Luck? Brrrring! Brrrring! Jane checked the caller ID on her phone. “Sam! Great!” she thought. It was always nice to get a call from her older brother. But a little twinge of worry tugged at her. It was just a couple of weeks ago that he had mentioned making an appointment with his doctor about some abdominal pain he had been having. “Hi Sam! It’s great to hear from you,” Jane answered. “Hi Jane. Well I...
The Case Study in Cancer Part I Ann is a 27-year-old nurse working at the local hospital in surgery. She had worked hard to move into the specialty, and she was enjoying her career, friends, and family. She and her partner had been living together for about a year, and she was content. As a nurse, Ann knew the importance of doing breast self-exams, and did them regularly. In the shower one morning, she felt a lump she wasn’t familiar...