ePAG interviews

ERN GENTURIS spotlights - ePAG interviews

In the spotlights: Georgina Hoffmann

Posted on 22 January 2025

 

Name: Georgina Hoffmann

City: Schorndorf, Germany

 

Could you tell us about your background?

I am originally from Toronto, Canada. I have been living in Germany with my husband and our two sons since 2002. Sports, physical activity and being outdoors is an important aspect of my life, as is plant-based nutrition.

 

Could you tell us about your experience as a patient with a genturis (genetic tumour risk syndrome)?

I am grateful to be an ePAG with GENTURIS as my life has been heavily impacted by cancer.

My great-grandmother passed away at the age of 43 from breast cancer. My grandmother, developed colon cancer at age 44. I was a toddler at the time. Soon thereafter, my mother and her three sisters were diagnosed with cancer, as well. The C-word had become a regular topic of discussion at our family’s dinner table.

An article about hereditary cancer in the newspaper in the late 1980s prompted my mother to call our family doctor. He arranged for a consultation by a geneticist. We learned about the possibility of the so-called ‘Lynch Syndrome’ gene mutation running in our family. This important meeting convinced us to join a study by the Ontario Familial Colorectal Cancer Registry (OFCCR) in Toronto, Canada. We became one of the first families in this new genetic research program for Lynch Syndrome.

In May 2018, at the age of 47 I underwent surgery for an aggressive and fast growing ovarian cancer. A small water cyst the size of a pea had grown to a grapefruit size tumour in just fourteen months. The complete hysterectomy resulted in life-altering surgical menopause which continues to challenge me today.

In December 2021, I had a Hemicolectomy surgery for a new primary cancer tumor in my ascending colon. Nine days later, a second colon operation was performed on January 1, 2022 due to a perforated anastomosis and sepsis infection in my abdominal cavity. The pathology results indicated that cancer was present in some lymph nodes. I was eligible to join an immunotherapy therapy study in which I received an infusion of Atezolizumab biweekly for one year.

Since the beginning of my own cancer journey I have been given many conflicting recommendations for therapy from different experts. I am incredibly thankful for the great strides in cancer therapy treatment for Lynch Syndrome patients.

 

What are the main obstacles for genturis patients in your country - how can ERN GENTURIS help?

I believe that the main obstacle for Lynch Syndrome patients is the focus on standard procedures based on the location where a tumor is discovered, rather than the importance of the genetic origination and a specific treatment. As a result the latest findings for Lynch patients with MSI-high tumor mutations are not always applied. I am confident that ERN GENTURIS can change standard procedures by incorporating precision medicine. This would be more efficient and more effective for both the doctor and the patient.

 

What message do you have for the international medical community?

My first message is: Thank you for the research and collaboration worldwide in genetics and cancer.

My second message or impulse is to encourage more research regarding two areas: genetic polymorphisms (e.g. COMT, MTHFR) and the microbiome (e.g. Akkermansia muciniphila). A better understanding of these areas could provide important insights into the immune system of Lynch Syndrome patients. Early intervention could also mitigate health risks through means of dietary nutrition, nutraceuticals and healthy lifestyle interactions. Identifying different genetic SNP’s, such as cytochrome P450-2D6 could be extremely beneficial for pain management post-surgery. Patients who are newly diagnosed with a genetic mutation are often overwhelmed and desperate for guidance. Precision or personalized medicine as a standard in the future could play a key role in empowering patients with their health challenges.

This perspective for me as a patient, makes me very optimistic and hopeful for a healthy and happy future!