Category: Genetic Testing

Does cancer run in my family?

Cancer in your family may be caused by an inherited genetic change if:

  • You have a close (‘first degree’) relative, such as a parent, brother, sister or child, who has been diagnosed with 2 separate cancers. For example, bowel cancer and endometrial (womb) cancer
  • 2 or more close relatives on the same side of your family have had the same cancer
  • You or one of your relatives have a cancer most commonly seen in the opposite sex (for example, male breast cancer)
  • You have Ashkenazi Jewish ancestry
  • You have had cancer at a younger age than commonly seen (for example, bowel cancer under the age of 50)

This list is a guide only. If any of the above points apply to you, it is possible, but not certain, that you have an inherited genetic cause for cancer in your family.

https://www.cancer.ie/cancer-information/about-cancer/cancer-and-genes

https://www2.hse.ie/conditions/lynch-syndrome/

Lynch Syndrome UK – New Website

Check out their newly launched version….lots of information that you might find useful.

https://www.lynch-syndrome-uk.org

Prospective Lynch syndrome database

A prospective Lynch syndrome database is important because it allows researchers, clinicians, and policymakers to collect and analyse long-term, standardised data on people with Lynch syndrome (LS).

(Using Chat GPT)

📌 In short: A prospective Lynch syndrome database is essential because it produces high-quality, unbiased evidence on cancer risks, surveillance effectiveness, and preventive strategies, directly improving patient care and shaping clinical guidelines.

Here are the key reasons why it matters, based only on reliable clinical and research perspectives:

  1. Natural history understanding
    • Prospective data (collected forward in time) helps clarify the true risks of different cancers (colorectal, endometrial, ovarian, gastric, etc.) in Lynch syndrome carriers.
    • It reduces biases compared to retrospective reports, which often overestimate risks due to selective reporting of severe cases.
  2. Better risk stratification
    • Different mismatch repair (MMR) gene variants (MLH1, MSH2, MSH6, PMS2, EPCAM) carry different cancer risks.
    • A prospective database helps define more precise, gene-specific and even sex-specific risk estimates, which guide personalized surveillance.
  3. Evaluation of surveillance effectiveness
    • Prospective registries allow direct measurement of how colonoscopy intervals (e.g., every 1–2 years) affect cancer incidence, stage at diagnosis, and mortality.
    • They can test whether surveillance reduces advanced cancers, enabling evidence-based guideline updates.
  4. Assessment of preventive strategies
    • Allows evaluation of risk-reducing interventions such as aspirin (e.g., CAPP2/CAPP3 trials), prophylactic surgeries, or lifestyle modifications.
    • Can help identify who benefits most from preventive measures.
  5. Improved clinical counseling
    • Physicians and genetic counselors can give patients more reliable, individualized risk information, reducing uncertainty and supporting informed decisions.
  6. Data for health policy
    • National or international databases provide evidence for cost-effectiveness of surveillance and preventive programs.
    • This supports resource allocation and insurance coverage for Lynch syndrome management.
  7. Research opportunities
    • Creates a resource for studying modifiers of cancer risk (genetic, environmental, lifestyle).
    • Enables collaboration across centers and countries for rare cancers within LS populations.

https://plsd.eu

Finding Support in Unexpected Places Through Hereditary Cancer Advocacy

Key Takeaways:
  • Hereditary cancer syndromes, despite genetic differences, share common challenges like risk-reducing surgeries and emotional burdens, necessitating comprehensive advocacy and support.
  • Honest dialogue about the complexities of living with hereditary cancer risks is crucial, even if it involves discussing difficult truths about surgical outcomes.
  • Amy Byer Shainman exemplifies effective advocacy through education, films, and writings, providing a voice to those navigating genetic cancer risks.
  • Real support involves empathy and standing by individuals, acknowledging their complex stories and ensuring they don’t face their challenges alone.

https://www.curetoday.com/view/finding-support-in-unexpected-places-through-hereditary-cancer-advocacy?fbclid=IwY2xjawMTrS1leHRuA2FlbQIxMQABHtD4vd53G8khEpi8yVRc1ZgAOJl9xhoSxSr8M0l9AKHWTT2W_PiwqsoIE03m_aem_I5FK0MsU87kUn0EuHxXBUA

Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome

Colonoscopy is expected to reduce colorectal cancer (CRC) incidence in Lynch syndrome (LS) by detecting and removing adenomas. The existence of gene-specific differences in adenoma detection has been proposed yet remains insufficiently explored.

Conclusions

Carriers of MLH1/MSH2 pathogenic variants are at a higher risk of developing AAs compared with those with MSH6/PMS2 mutations, with MSH6 carriers exhibiting an intermediate risk profile. Advanced adenomas(AA) are an independent risk factor for post-colonoscopy CRC . LS patients with AAs should be identified as high risk and undergo enhanced colonoscopy surveillance.

https://www.sciencedirect.com/science/article/abs/pii/S001650852500650X?dgcid=author

A Beginner’s Guide to Lynch Syndrome

https://www.mskcc.org/cancer-care/patient-education/managing-lynch-syndrome

Lynch Syndrome – Cascade Testing

Cascade testing refers to testing “at-risk” family members for a gene mutation, once the mutation has been found in a family member.

For Lynch syndrome, once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies.

So if a family member has Lynch syndrome

You can ask your GP to refer you to a cancer genetics service.

Family members who can get a test include:

  • parents
  • brothers or sisters
  • children age 18 and over

Ask your relative for a copy of their Lynch syndrome test result or a letter you can bring to your GP appointment – if they have one.

If you get a Lynch syndrome diagnosis, your relatives can ask their GP to refer them to a cancer genetics service. This is known as cascade testing. It is also known as predictive testing.

Lynch syndrome test results can help your healthcare team:

The Cancer Prevention Project 3 study (CaPP3)

The trial involved 1,879 people with Lynch syndrome who were given three different-sized doses of the painkiller.

The Cancer Prevention Project 3 study (CaPP3), supported by Cancer Research UK, involved patients taking a different daily dose of aspirin: 100mg, 300mg or 600mg.  In the trial, a European-sized dose of 100 mg aspirin was used. The established dose is 75mg per day in the UK, and 81mg in the US.

People with Lynch syndrome have inherited a faulty gene which can increase their chances of developing some cancers – including bowel and womb cancer.

Prof John Burn, who led the international study, said he focused his research on those patients “because they get so many cancers”. 

“We already have NICE guidance saying people with Lynch syndrome should be recommended to take aspirin. Now we should recommend a baby aspirin.” new results showed the lowest dose worked just as well as the larger doses.

“Roughly speaking, if someone with Lynch syndrome has about a 2% a year chance of getting mostly bowel cancers, we think if they take aspirin, that is halved – down to about 1% a year,” he explained.

In some people, aspirin can cause bleeding, so Prof Burn said he wanted health regulators to now recommend the lowest dose be given to Lynch syndrome patients.

https://www.bbc.com/news/articles/c05702zjl2do