Background <p>Hereditary tumor predisposition syndromes remain a&#xa0;diagnostic challenge and are still frequently underrecognized in clinical practice. At the same time, there is growing evidence that genetic findings—such as defects in homologous recombination—are increasingly guiding early detection and individualized therapeutic decision-making.</p> Objective <p>The aim of this work is to present the current status of genetic testing for tumor predisposition syndromes, to highlight the importance of standardized indication criteria for identification of individuals at risk, and to outline the relevance of genetic findings for early detection and therapeutic decisions.</p> Methods <p>A&#xa0;structured review of current guidelines and publications on indication criteria and clinical implications of genetic findings was performed.</p> Results <p>Consistent application of standardized indication criteria enables reliable identification of individuals at risk. Targeted testing of relatives allows early recognition of carriers of pathogenic variants and initiation of structured programs for intensified surveillance. In addition to established syndromes such as hereditary breast and ovarian cancer (HBOC) or Lynch, moderately penetrant genes and polygenic risk profiles are increasingly gaining clinical relevance.</p> Conclusion <p>The integration of molecular genetic diagnostics into routine care is crucial to enable patients to benefit from personalized early detection and therapy. Key challenges include the management of variants of uncertain significance and incidental findings, the clinical interpretation of which is becoming increasingly important. In the future, risk stratification approaches should integrate both genetic and non-genetic factors in order to further advance precision medicine and risk-adapted prevention.</p>

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Innovative Ansätze zur risikobasierten Früherkennung und Prävention von hereditären Tumorerkrankungen

  • Anne Quante,
  • Katrin van Beekum,
  • Thomas Büttner,
  • Marion Kiechle,
  • Robert Hüneburg

摘要

Background

Hereditary tumor predisposition syndromes remain a diagnostic challenge and are still frequently underrecognized in clinical practice. At the same time, there is growing evidence that genetic findings—such as defects in homologous recombination—are increasingly guiding early detection and individualized therapeutic decision-making.

Objective

The aim of this work is to present the current status of genetic testing for tumor predisposition syndromes, to highlight the importance of standardized indication criteria for identification of individuals at risk, and to outline the relevance of genetic findings for early detection and therapeutic decisions.

Methods

A structured review of current guidelines and publications on indication criteria and clinical implications of genetic findings was performed.

Results

Consistent application of standardized indication criteria enables reliable identification of individuals at risk. Targeted testing of relatives allows early recognition of carriers of pathogenic variants and initiation of structured programs for intensified surveillance. In addition to established syndromes such as hereditary breast and ovarian cancer (HBOC) or Lynch, moderately penetrant genes and polygenic risk profiles are increasingly gaining clinical relevance.

Conclusion

The integration of molecular genetic diagnostics into routine care is crucial to enable patients to benefit from personalized early detection and therapy. Key challenges include the management of variants of uncertain significance and incidental findings, the clinical interpretation of which is becoming increasingly important. In the future, risk stratification approaches should integrate both genetic and non-genetic factors in order to further advance precision medicine and risk-adapted prevention.