Judy Smith Medical Report

Background Knowledge

Judy Smith Medical Report

Diagnoses

Findings

Treatment Plan

Preventative Measures

Follow Up Instructions

Diagnoses Judy Smith's diagnoses is that she has the same allele, allele 3, as her family members, Laura and Jennifer, who have breast cancer. This means that they are all carriers of the BRCA 2 gene.

Background Knowledge Bill, Laura, and Jennifer all were diagnosed with breast cancer, and they carry the BRCA 2 gene. I know that they have the BRCA 2 gene because Bill, who is a male, carries it, so therefore it is most likely this gene. BRCA 1 is usually found in only females. I know that this family has hereditary cancer. I know this because the BRCA 2 is passed down and their is patterns of cancer within the family. Familial cancer is an inherited genetic disorder and is passed down from parents to children. And sporadic cancer only happens by chance and happens to people with no family history of cancer.

Finding DNA Sample:FragmentDistance Migrated (mm) ADistance to Reference Point (mm) BRfA/BDianaFragment 1Fragment 24758 109109 0.430.53 JenniferFragment 1Fragment 25264 109109 0.480.59 LauraFragment 1Fragment 24864 109109 0.440.59 JudyFragment 1Fragment 23865 109109 0.350.6 DNA Sample:Fragment:Fragment Length (in base pairs)Allele PresentDianaFragment 1Fragment 2 700500 64 JenniferFragment 1Fragment 2 600400 53 LauraFragment 1Fragment 2700400 63 JudyFragment 1Fragment 2 900400 83 To find this diagnoses, we used marker analysis to see if Judy also has the BRCA2 gene. Marker analysis is where we analyze gene mutations using a genetic marker. A genetic marker is a short sequence of DNA of a certain gene or trait on a chromosome. The markers used in marker analysis are called short tandem repeats, or STRs. A STR is a part of DNA composed of a short sequence of nucleotides repeated many times. The number of repeats in STR depend on the person. We can use STR to differentiate between different alleles. For this marker analysis, we used chromosome 13, which is where the BRCA2 gene can be found. We used gel electrophoresis to measure the DNA, the shorter pieces will travel farther than the larger pieces. So we first conduct the gel electrophoresis. Next, we measured the distance migrated from each of the standard markers, so we could make a standard curve. To make this linear, we had to convert those values to relative mobility value (Rf). To do this we take Distance migrated (mm) and then divide that by Distance to Reference Point (mm) and then that will give you the Rf. To plot this, you go on the x-axis and find where your Rf will be, then go up by the fragment length. Then, we found the Rf for each fragment from Diana, Jennifer, Laura, and Judy. We then used the standard curve to determine the fragment length of each fragment. We use the fragments Rf to determine the fragment length by going on the x-axis, finding the Rf, and then going up to where it meets the standard curve, and that is our fragment length. We then rounded to the closest hundredth, as you can see in the second data table. When looking at the second data table, we can see that Jennifer, Laura, and Judy all have allele 3 present. From this information, we know that means that Judy also has the BRCA2 gene because she has the same allele present as Jennifer and Laura.

Treatment Plan I think Judys best treatment option would be to participate in hormonal therapy. It will help reduce the risk for her first diagnosis of breast cancer. She should also keep an eye out for lumps, and participate in regularly checks and mammograms.

Preventative Measures Some preventative measures include avoiding drugs, such as tobacco, and alcohol. As well staying at a healthy weight, participating in physical activity regularly, and having good nutrition habits. These can not only help prevent cancer, but also help prevent other health problems and allow better quality of life. Some treatments for breast cancer include hormonal therapy, or a prophylactic surgery. For Judys sake, this could also help her prevent getting diagnosed with breast cancer.

Follow Up Instructions Judy Smith should start hormonal therapy and set up mammogram appointments as soon as she can.