Investigating the BRCA1 Mutation F.R.E.S.H Docs

Angelina Jolie Actress, Film director, and Screenwriter Mother had Breast Cancer and died at 56 from Ovarian Cancer Jolie decided to undergo a double- mastectomy in order to reduce her risk of developing cancer 

 To establish what the BRCA1 mutation is.  To learn the cellular function of BRCA1.  To thoroughly investigate how disturbance of these functions ultimately leads to cancer. What Are The Specific Objectives For Our Group Study? 

 The gene that the BRCA1 is located on, codes for a protein that repairs DNA.  The DNA can be damaged during replication or from exposure to carcinogens.  When the DNA breaks, the cell cannot pass on damaged genetic material, so it will self destruct through apoptosis. Cell Functioning without BRCA1 mutation 

 BRCA1 mutation is a change made to a gene which normally codes for a protein that functions to repair damaged DNA.  This gene is located on the 17 th chromosome. What is the BRCA1 mutation?  There are two noted mutations in the BRCA1 gene that lead to 80% to 90% of the cancers developed from mutations within this gene’s sequence.  These mutations specifically result from the addition or subtraction of one or more nucleotides from this sequence. 

 When DNA is damaged, multiple proteins within the cell work to recognize the damage and correct it  The BRCA1 mutation may code for a protein that no longer correctly repairs the DNA  The cell then may replicate the mutated DNA, which leads to a higher rate of mutation  This generates a greater chance that the specific mutations, which cause cells to divide uncontrollably, will develop. How does the mutations lead to cancer? 

 The BRCA1 mutation gives women a 60% to 80% chance of developing Breast Cancer, and 20% to 45% chance of developing Ovarian Cancer.  Women without the BRCA1 mutation have a 13% chance of developing Breast Cancer in their lifetime.  Men possessing BRCA1 mutation have a 1% to 5% chance of developing Breast Cancer. Men may be at such less of a risk because they do not have the high levels of the hormone estrogen. What are the odds of developing cancer with this mutation? 

 No, the gene does not skip generations.  Children of a parent with the mutation have 50% chance of inheriting the mutation.  The mutation is genetically inherited dominant, yet its phenotypic interaction within the cell might not actually lead to its expression.  Carrying this mutation does not guarantee that cancer will develop, it just makes the chances that it will develop very high. Does the BRCA1 mutation inheritance skip generations? 

 Having a mutated BRCA1 gene does not guarantee that cancer will develop; it leads to a higher rate of mutation  In order for cancer to develop there are a number of specific mutations to the cells DNA that need to occur and even with the BRCA1 mutation, it is rare that these will all unfold within a single cell  Yet, there are billions of cells in the breast and ovarian tissues resulting in a greater chance that cancer will develop Conclusion 

 Are there preventative measures being explored specifically dealing with the manipulation of genetic sequencing?  If someone discovers that they have the BRCA1 mutation, how does it affect their life from that point?  Is testing for this BRCA1 mutation offered at any age? Additional Questions 

age Sources