Category: Uncategorized

Pathogenic germline variants in the mismatch repair (MMR) genes(Lynch syndrome) are associated with an increased risk of prostate cancer.

This is a prospective observational study of 225 male MMR carriers who were recommended annual PSA screening.

Conclusions:

The results of this long-term prospective observational study indicate that the MMR genes and especially MSH2 and MSH6 are associated with a significantly increased incidence of PCa compared to men in corresponding age groups and birth cohorts without any known genetic predisposition, and with a high number of cancers showing aggressive characteristics. While we still do not know whether screening has led to an improved prognosis, we conclude that our findings support continued PSA screening of MSH2 and MSH6 carriers. Further studies are needed to provide optimal recommendations for PSA threshold and to clarify whether such screening is not indicated in MLH1 and PMS2carriers.

https://onlinelibrary.wiley.com/doi/10.1002/pros.24711

Early-onset colorectal cancer (CRC) incidence in adults aged under 50 is increasing. There is a critical lack of knowledge regarding the challenges faced by early-onset CRC patients and their experiences of treatment.

Conclusions

The small(21)study highlights numerous unique issues experienced by the early-onset CRC patient group during treatment. There is a need for change in clinical practice, along with the development of international guidelines and tailored resources for both patients and healthcare professionals, in order to improve care.

https://onlinelibrary.wiley.com/doi/10.1002/pon.6367

https://www.sciencedirect.com/science/article/pii/S0960977624001681

Conclusion

Currently the needs of MBC patients in Ireland and Northern Ireland have many unmet needs. The routine early provision of palliative care, psycho-oncology, medical social worker and dedicated liaison nurse supports guided by national guidelines and education for healthcare professionals, integrated with living well with cancer clinics and a dedicated medically verified website would provide an ecosystem where MBC care could be optimised for patients and their families.

WORKING WITH MEN IN IRELAND TO ACHIEVE OPTIMUM HEALTH AND WELLBEING

There continues to be significant differences in health outcomes; not only between men and women, but between different population groups of men.

Click to access national-men-s-health-action-plan-2024-2028.pdf

When a person undergoes a genetic test it can identify a variant(change), but it is unclear whether that variant is actually connected to a health condition for example Lynch Syndrome.

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2825808

Conclusions and Relevance  In this cohort study of individuals undergoing genetic testing, the empirically estimated accuracy of pathogenic, likely pathogenic, benign, and likely benign classifications exceeded the certainty thresholds set by current variant classification guidelines, suggesting the need to reevaluate definitions of these classifications.

The relative contribution of various strategies to resolve VUS, including emerging machine learning–based computational methods, RNA analysis, and cascade family testing, provides useful insights that can be applied toward further improving VC methods, reducing the rate of VUS, and generating more definitive results for patients.

“Today is a day of hope,” said Mater hospital chairman David Begg as it launched an initiative which could mean cancer patients securing access to cutting-edge drug treatments in the State years in advance of when this would otherwise have been the case.

Miriam….“While I did not have the benefit of a clinical trial, I have received new treatments that have come through in the last six to seven years. I am currently stable [but] I have had the last line of treatment. So I am looking for what is coming next.”

https://www.irishtimes.com/health/2024/10/14/a-day-of-hope-irish-hospital-patients-get-access-to-early-phase-cancer-drugs/