The "RX: Part II - New Molecular Treatments For Cancer" Story

It was an ordinary day.  Sitting in my dermatologist's office waiting for my turn to be relieved of that which I shouldn't have on my body.  I wrote yesterday telling you that I have been found to have the BRAC2 Gene mutation.  Remember, the word MUTATION is the key word here.  So what is that and why should I care if I know about it?  First, I should try and tell you what the BRACA2 gene is.  (The following is only a condensed  description of what I have read.  Please Google the genes to find out more if you feel a need to do so.)  

The BRCA2 human gene symbol

The BRAC1 and BRAC2 are human genes that produce tumor suppressor proteins.  These proteins help repair damaged DNA and ensure the stability of each cell's genetic material.  When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly.  As a result, cells are more likely to develop additional genetic alterations that can lead to cancer which is a disease caused by an uncontrolled division of abnormal cells in a part of the body.  Specific inherited mutations can cause a variety of different cancers.  Breast, ovarian, fallopian tube, peritoneal, prostate, pancreatic and melanoma skin cancer are some of the cancers associated with the BRCA2 gene mutation.  The gene mutation can be inherited from a person's mother or father.  Each child of a parent who carries a mutation in one of these genes (BRCA1 or BRAC2) has a 50% chance of inheriting the mutation.  My father had prostate and liver cancer while my mother had breast cancer and melanoma skin cancer.  As far as I know, neither died from those cancers.  But, I seem to have been the son who is carrying on the BRAC2 gene mutation within the family.  Hereditary mutations are present in both a patient's cancer cells and in the rest of the cells in their body.  Researchers have known for many years that hereditary BRAC mutations increase cancer risk, but they are now learning that patients who have these mutations are more likely to benefit from a class of targeted therapies, called PARP inhibitors, than patients without these mutations.  When I found I had prostate cancer, my doctor, Dr. Paul Sieber, made sure I had a genetic test.  His son is a geneticist and he realizes how important it is to know your genetic makeup before treatment for any disease.  Many cancer patients are increasingly receiving treatments guided by the molecular characteristics of their cancer cells so it is important to know if you have a specific gene mutation before treatment.  While waiting in my dermatologist's office today, I picked up a magazine titled cancertoday with a sub-title of "Practical Knowledge. Real Hope."  We all will die sometime, it's a fact of life, but I'm sure you aren't ready yet.  Same for me!  I have too many places to visit, too many things to do, to many stories to write and tell and too many laughs to laugh.  I'm convinced that I have doctors who will make sure I will live as long as possible.  My wish for you is that you too have some of the best care available to give you a long, successful and meaningful life. It was another extraordinary day in the life of an ordinary guy.  PS - Tomorrow I will take you along with me as my wife tells some of the things she has experienced along the way with breast cancer and the feeling of triumph.