22-01-2025

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

Katharina Wimmer, associate professor at the Institute of Human Genetics at the Medical University Innsbruck, Austria, is head of the diagnostic laboratory of the Hereditary Cancer Genetics unit at this institute. She serves as national coordinator of the ERN GENTURIS in Austria and is coordinator of the Austrian Expert Center for Hereditary Tumour Disposition Syndromes. Her research focusses on the molecular aspects of hereditary cancer with specific interest in constitutional mismatch repair deficiency (CMMRD) and more broadly constitutive replication error repair deficiencies. She co-founded the European consortium ‘Care for CMMRD’ (C4MMRD), which aims at improving diagnosis and management of children/young adults with this syndrome.

Chrystelle Colas is a doctor specialising in genetics and oncogenetics. She is head of the clinical genetics unit at the Institut Curie. Her areas of expertise are cancer predisposition, in particular for breast, ovarian and digestive cancers. She also holds a PhD in tumour genetics. Her research focuses on cancers linked to DNA repair anomalies, in particular CMMRD syndrome and digestive cancers. She is a board member of the French national network of the Groupe Génétique Cancer and a member of the ERN GENTURIS. She co-founded the European consortium ‘Care for CMMRD’ (C4MMRD), which aims to improve the diagnosis and management of children/young adults with this syndrome.

CMMRD is a rare cancer predisposition syndrome conferring an extremely high risk for a broad spectrum of cancers from childhood onward. Over the past ten years several expert groups including C4CMMRD established guidelines to improve diagnosis of and cancer surveillance in CMMRD. These guidelines needed an update taking into account recent developments improving CMMRD diagnosis and the efficacy of cancer surveillance protocols. Moreover, CMMRD healthcare practice varies and professional guidelines on genetic counselling, quality of life, and cancer treatment were lacking. Therefore, based on our current knowledge, ERN GENTURIS and C4CMMRD combined efforts to update the different guidelines on diagnosis and surveillance as well as to formulate recommendations for clinical treatment, quality of life, and genetic counselling of CMMRD patients in one comprehensive guideline, which will be presented in this webinar.

Registration: https://attendee.gotowebinar.com/register/4506400526900455262