Session 5: Family history and pedigree (Discussion board Case Study and Questions) J.P. is a 45-year-old Caucasian female who has recently been diagnosed with right-sided colon cancer. She has asked about the possibility of a cancer predisposition in her family. J.P. had a personal history of a colon polyp at age 43, type unknown. Further medical history is unremarkable.
I developed this whole diagram myself by hand first, and then drew it on Draw.IO. Since it is an extremely complex task, I thought I should let my readers have it so it can help them. Don't forget to give a thumbs up! :)
Solution
One of the major pieces of evidence that we can find from the case analysis of an inherited susceptibility to cancer is that J.P.s mother, sister, and brother have had different types of cancers. J.P.’s having a colon polyp is another red flag. This is one of the indications reported in literature for inherited susceptibility to cancer, and most likely it is the lynch syndrome (Medline Plus, 2021; Bethesda, 2002).
3. What resources would you use to assist in establishing a differential diagnosis regarding cancer risk in this family?
Although the carcinoma in the case study is highly likely the lynch syndrome (LS), it is almost impossible to say if it is LS 1 or LS 2. To make the differential diagnosis, thus, the family member must go to a specialized cancer care where their history, tumor tissue analysis, and DNA analysis are done. Without this detailed approach to testing it is challenging to offer a differential diagnosis (Hendriks et al., 2006).
4. What genetic tests if available would you advise?
The mutations of genes (heritable) associated with the LS are EPCAM, PMS2, MLH1, MSH2, and MSH6, and their genetic mutation for LS can be confirmed through a blood test. So, I would highly recommend J.P. and her other family members (daughters) to take this test (Hendriks et al., 2006).
5. Are there any support groups that you would recommend for the family?
There are a number of support groups online and physical that are working to offer enough support to members of a patient with cancer and the families that may have a risk of running carcinomic mutations. A very well-know, global, online platform is the Cancer.Net (2021) that has more than 100 groups for different types of cancerous conditions. Similarly, there is this Cancer.Org (2021) that helps one find local support for their condition and connect with appropriate assistance network and access to appropriate healthcare. Other than these two, there are a number of other support groups available both online and locally.
