Lynch Syndrome as a Family Diagnosis

It’s a Family diagnosis.

Open communication is important.

Knowledge is power.

Why would you not want to know???

Serendipity Strikes: How Pursuing Novel Hypotheses Shifted the Paradigm Regarding the Genetic Basis of Colorectal Cancer and Changed Cancer Therapy

Discoveries enabled better understanding of how the DNA mismatch repair (MMR) system not only recognises DNA damage but also responds to damage by DNA repair or by triggering apoptosis(cell death) in the injured cell. 

What has happened over the past 37 years was not predictable when this journey began, but it does speak to the power of careful scientific experimentation, following the facts, perseverance in the face of opposition, and the willingness to think outside of established paradigms.

The conclusion that CRCs with MSI responded differently to classical cytotoxic chemotherapy than did non-MSI CRCs and eventually, the key clinical paradigm shift was the discovery of ICT(Immune checkpoint therapy and its unique effect on tumours with MSI.

Some of these concepts required brilliant thinking and interpretation and others seemingly announced themselves after the correct understanding of an unexpected observation. Since this astonishing series of events unfolded over about four decades, there is hope that this remarkable progress will continue into the future.

https://link.springer.com/article/10.1007/s10620-023-08006-z#Sec18

Improving Doctor, Patient, and Caregiver Communication

There is a great deal to be gained by improving communication between patients, family caregivers, and healthcare professionals — especially physicians. Better care for patients, less stress for caregivers, more efficient use of doctors’ time, and improved satisfaction for all concerned can be achieved when caregivers and patients communicate effectively with their care team.

Doctors at MSK are learning how to talk to patients, caregivers, and peers through their Communication Skills Research & Training (COMSKIL) program.

In this webchat, MSK experts will discuss how patients and caregivers benefit from this training, as well as how you can use communication techniques, research, and information from the program when talking to your doctors and loved ones.

Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study

Identifying affected people is crucial to cancer management and in providing risk-reducing strategies for them and their affected relatives.

Results: They identified 465 people diagosed with endometrial cancer during the study period. Most were aged 51 years or older, and had obesity and low-grade early-stage endometrioid tumours. Tumour immunohistochemistry testing was performed in 444 cases (95.5%). Based on local criteria, 189 patients were eligible for genetic counselling, of whom 156 (82.5%) were referred to medical genetics. Of the 98 patients who underwent germline testing, 9 (9.2%) were diagnosed with Lynch syndrome.

Advances in vaccine development for cancer prevention and treatment in Lynch Syndrome

https://doi.org/10.1016/j.mam.2023.101204

Highlights

  • •Tumors from Lynch syndrome patients have high mutation and neoantigen burden, which leads to high infiltration of T-cells.
  • •Certain tumor neoantigens are shared among Lynch syndrome patients due to mutations recurring in prone microsatellite loci.
  • •Several in silico tools have emerged to predict neoantigens and their immunogenicity from next-generation sequencing data.
  • •Lynch Syndrome patients are a defined and prevalent population with potential to benefit from cancer immune-interception.
  • •Neoantigen-based vaccines hold promise for the treatment and potential prevention of mismatch repair deficient cancers.

When your doctor doesn’t listen — 10 tips to help change that.