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SHR Neuro Cancer Cardio Lipid Metab Microb

Wimmer, K; Hulla, W; Zschocke, J; Lax, SF; Webersinke, G; Zelger, B; Uyanik, G; Kain, R; Speicher, M; Hoefler, G.
Detection of hereditary colon and uterine cancer Consensus of the Austrian Working Group Pathology-Human Genetics to improve the care for Lynch syndrome patients and affected relatives.
ONKOLOGE. 2020; Doi: 10.1007/s00761-020-00773-y [OPEN ACCESS]
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Leading authors Med Uni Graz: Höfler Gerald; Speicher Michael
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Abstract:: A familial tumor predisposition syndrome must be considered a possibility in every cancer diagnosis. The detection of affected "index" patients is crucial for determining the risk of new or recurrent disease in the affected individuals as well as for the occurrence of tumors in previously healthy relatives. The registration of patients with familial tumor predisposition makes it possible to include them in screening programs to reduce morbidity and mortality. In Austria, there is already broad public awareness of hereditary breast and ovarian cancer syndromes. Thus, satisfactory detection of patients is achieved. Unfortunately, this is not the case for Lynch syndrome, which is present in 2-3% of all colorectal and endometrial cancers. To improve the identification of patients with Lynch syndrome, the Austrian Working Group Pathology-Human Genetics (the Austrian Working Group Pathology-Human Genetics comprises five delegates each from the Austrian Society of Clinical Pathology and Molecular Pathology and the Austrian Society of Human Genetics) recommends in this consensus statement a diagnostic strategy that covers as far as possible all colorectal and endometrial cancers associated with Lynch syndrome as part of the pathological tumor assessment. Systematically referring patients with suspected Lynch syndrome to medical genetics centers for genetic counselling and further genetic diagnostic workup ensures that family members with Lynch syndrome are also identified.
Find related publications in this database (Keywords): Lynch Syndrome; Colorectal cancer; Endometrial cancer; DNA missmatch repair deficiency; Genetic counselling