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Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes – an EHTG, PLSD position statement

Improved survival following early diagnosis and treatment of MSI cancers of the colon, endometrium and ovary has led to carriers living on and contracting subsequent cancers in other organs. These have worse prognoses.

Tests for MSI have generally been optimised to demonstrate MSI colon cancers, but the different Lynch syndrome genes have different organ specific penetrance and expressivities. The prevalence of MSI in cancers in these other organs is not well studied, with respect to either how to test for MSI cancers in these organs or to estimate the frequency of MSI cancers. Identifying such MSI cancers would be of interest to select cases for immunotherapy tailored against MSI cancers.

The obvious next steps for clinical research on the MSH2 and MLH1 syndromes include determining the effects of immunotherapy for cancers with currently poor prognoses.

https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-023-00263-3

NCCN guidelines

Genetic/Familial High-Risk Assessment: Colorectal

– Adenomatous Polyposis Testing Criteria

– Attenuated Familial Adenomatous Polyposis

– Colonic Adenomatous Polyposis of Unknown Etiology

– Familial Adenomatous Polyposis

– Juvenile Polyposis Syndrome

– Lynch Syndrome

– MUTYH-Associated Polyposis

– Peutz-Jeghers Syndrome

– Serrated Polyposis Syndrome

When Your Family Is Impacted by Hereditary Cancer – An Interview with My Sister

Cancer is scary and heredity (not just BRCA mutations) plays a huge role in some families.

Launch of Hereditary Cancer Model of Care (Ireland)

Hereditary Cancer Model of Care provides the blueprint for the necessary development of services for the identification and management of people with an inherited cancer predisposition (e.g. Lynch syndrome or BRCA gene cancer risk), in order to harness the power of genetics to reduce cancer risk, and improve patient outcomes and quality of life.

The model of care will ensure/support the development of:

  • Development of national guidance to underpin standardised best practice, including mainstreaming of cancer genetic testing
  • Equitable access to hereditary cancer services for all
  • Clear governance and clarity regarding the roles of national genetics and genomic structures, specialist cancer genetics services and regional cancer predisposition services, within an overarching model of care
  • Commitment to the Sláintecare principles of right person, right place, right time – through the integration of genetic assessment and testing into regional services, with access to specialist genetic expertise as required
  • Maximal use of technological solutions
  • Timely access to genetics assessment and testing, including specialist cancer genetics expertise as required
  • Timely access to clinical management of cancer predisposition, including risk reduction options
  • Comprehensive and coordinated approaches to ongoing management
  • Quality assurance of service
  • Access to high quality patient information, psychological support and peer support for patients
  • Education and training of health care professionals, including accredited training for those delivering mainstreamed pathways

https://www.hse.ie/eng/services/list/5/cancer/news/launch-of-hereditary-cancer-model-of-care.html?fbclid=IwAR3vT3_RDbmNM4YhcTQFjNj_mxPEfoFHrIBut6iukmsFyxs2FkHj2hDdbGw