Recent Advances in Lynch Syndrome Diagnosis, Treatment and Cancer Prevention

Conclusion:

The identification and management of individuals and families with Lynch syndrome has evolved rapidly during the past decade or so. Advances in molecular testing and NGS technologies now allow all patients with colorectal and endometrial cancers to reliably receive screening for underlying Lynch syndrome, whereas innovations in immuno-oncology promise to continue revolutionising the treatment of Lynch-associated cancers.

To continue moving the needle forward, expanded efforts to diagnose Lynch syndrome in healthy, cancer-free individuals are needed, rather than relying on the identification of Lynch syndrome through a new cancer diagnosis.

Identification of Lynch syndrome offers the potential to prevent cancer-related morbidity and mortality, and continued progress in understanding the immune system’s ability to recognize, eradicate, and intercept Lynch-associated neoplasia offers many intriguing possibilities for immune-based primary cancer prevention.

https://ascopubs.org/doi/10.1200/EDBK_208341

Menopause, Diet and Cancer

This resource is designed to offer practical, evidence-based guidance on how dietary and lifestyle choices can alleviate menopausal symptoms and enhance overall well-being during this unique phase of life. Cancer treatments can sometimes trigger a sudden, intense menopause, often leading to more severe symptoms than those of natural menopause. For some, these symptoms are manageable, while others may find them overwhelming, impacting quality of life.

This book provides support and strategies, covering nutrition and lifestyle modifications to help ease these challenges.

https://www.cancer.ie/menopauseplate

Assessing preventive gynecologic decisions in individuals with Lynch syndrome

Highlights
  • Current Lynch syndrome guidelines for managing gynecologic risks are vague and often left to a clinician’s discretion.
  • Among 115 patients with intact uterus and/or ovaries upon Lynch diagnosis, 71 (61.8 %) underwent risk-reducing surgery.
  • Older age, lower education, completed childbearing, and history of non-gyn cancer were associated with having surgery.
  • Patients felt anxiety and frustration with the lack of provider knowledge and support to manage gynecologic cancer risks.

https://www.sciencedirect.com/science/article/abs/pii/S0090825825008297

What I Wish I Knew

What do you wish you knew then that you know now about your cancer experience?

https://womenofteal.blogspot.com/2025/05/what-i-wish-i-knew.html

Lynch Syndrome: Similarities and Differences of Recommendations in Published Guidelines

ABSTRACT:

Background: In this review, we aimed to compare the recommendations for Lynch syndrome (LS).

Methods: We compared the LS’s guidelines of different medical societies, including recommendations for cancer surveillance, aspirin treatment, and universal screening.

Results: Most guidelines for LS patients recommend intervals of 1–2 years for performing colonoscopy, though there is disagreement regarding the age to begin CRC screening (dependent on status as a MLH1/MSH2 or MSH6/PMS2 carrier). There are inconsistencies between LS guidelines for gastric cancer surveillance. Most guidelines do not recommend routine surveillance of the pancreas and small bowel. Most but not all of the guidelines support endometrial and ovarian surveillance with trans- vaginal ultrasound and endometrial biopsy. Only two societies recommend urological surveillance, while others recommend surveillance among high-­ risk carriers with family history only. There is significant disagreement between the guidelines about the recommendation for limited or extended bowel resection among patients with CRC. Aspirin use is recommended by most societies, though some with reservations, and most of them recommend universal screening.

Conclusions: There are significant disparities and disagreements in the guidelines and recommendations for patients with LS, causing confusion and difficulties for clinicians. Harmonisation and cooperation are needed between the societies creating LS guidelines.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jgh.16881

Lynch Syndrome

https://www.cancer.ie/cancer-information-and-support/cancer-information/about-cancer/causes-of-cancer/cancer-and-genes/lynch-syndrome

Lynch syndrome increases the risk of a number of cancers. In general, the risk is highest for colorectal (bowel) cancer, but it depends on the gene affected. 

Some colorectal (bowel) cancers are hereditary. Up to 5 people out of every 100 diagnosed with bowel cancer have Lynch syndrome. Other cancers linked to Lynch syndrome include:

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

  1. About
  2. Testing and diagnosis
  3. Your results
  4. Help and support
  5. Reducing your risk of cancer
  6. Children and family planning

Lynch syndrome for the gynaecologist (Nov 2020)

Key content
  • Lynch syndrome is an autosomal dominant condition closely associated with colorectal, endometrial and ovarian cancer.
  • Women with Lynch syndrome are at increased risk of both endometrial and ovarian cancer and should be offered personalised counselling regarding family planning, red flag symptoms and risk-reducing strategies.
  • Surveillance for gynaecological cancer in women with Lynch syndrome remains controversial; more robust data are needed to determine its effectiveness.
  • Universal testing for Lynch syndrome in endometrial cancer is being adopted by centres across Europe and is now recommended by the National Institute for Health and Care Excellence; thus, gynaecologists must become familiar with testing strategies and their results.
  • Testing strategies involve risk stratification of cancers based on phenotypical features and definitive germline testing.

https://obgyn.onlinelibrary.wiley.com/doi/10.1111/tog.12706

HSE Health A-Z

https://www2.hse.ie/conditions/?fbclid=IwY2xjawJkYm5leHRuA2FlbQIxMQABHkFLUBpOydNbjldMlqnKhFD4QPIqKDYAcq9evuEd5_8reM0IMb1AqnvBNIVo_aem_MZRw4PsbrQDiYxV5n49fCA#L

Check out new addition on “Lynch syndrome” thanks to NCCP.

Outcomes of endometrial cancer prevention strategies in Patients with Lynch syndrome: a nationwide cohort study.

Female Lynch syndrome carriers have an increased risk of developing endometrial cancer. Regardless, research on endometrial carcinoma tumorigenesis is scarce and no uniform, evidence-based gynaecological management guidelines exist. We therefore described gynaecological surveillance and surgery outcomes in a nation-wide Lynch syndrome cohort.

Interpretation: In a nation-wide cohort of Lynch syndrome carriers, nearly one-third of eligible carriers did not undergo gynaecological surveillance. Endometrial carcinomas diagnosed during surveillance were slightly more often stage FIGO IA, but this did not seem to substantially decrease the requisite for adjuvant therapy or affect overall survival, questioning effectiveness of current gynaecological management. Prospective research should further assess this, as well as patient preferences.