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Cancer Prevention02:59

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
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Hereditary gastrointestinal cancer.

Keisuke Hata1, Yoko Yamamoto1, Tomomichi Kiyomatsu1

  • 1Department of Surgical Oncology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

Surgery Today
|December 18, 2015
PubMed
Summary

Hereditary gastrointestinal (GI) cancer syndromes, like Lynch syndrome, increase early cancer risk. Genetic testing and surveillance are crucial for early detection and improved outcomes in affected families.

Keywords:
Familial adenomatous polyposisHereditary diffuse gastric cancerLi–Fraumeni syndromeLynch syndrome

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Area of Science:

  • Oncology
  • Genetics
  • Gastroenterology

Background:

  • Gastrointestinal (GI) cancers, including gastric and colorectal cancers, are significant global health burdens.
  • A notable percentage of GI cancer patients have a family history, indicating a genetic predisposition.
  • Identification of specific genes has illuminated hereditary GI cancer syndromes.

Purpose of the Study:

  • To provide a comprehensive overview of major hereditary GI cancer syndromes.
  • To discuss the diagnostic criteria, genetic testing approaches, and management strategies for these syndromes.
  • To emphasize the importance of awareness among gastroenterologists and GI surgeons.

Main Methods:

  • Literature review focusing on hereditary GI cancer syndromes.
  • Discussion of diagnostic methods and genetic testing protocols.
  • Synthesis of current management guidelines and surveillance recommendations.

Main Results:

  • Four major hereditary GI cancer syndromes are detailed: Familial Adenomatous Polyposis, Lynch syndrome, Hereditary Diffuse Gastric Cancer, and Li-Fraumeni syndrome.
  • Gene carriers are often diagnosed with multiple cancers at an early age.
  • Genetic testing and targeted surveillance offer life-saving potential through early detection.

Conclusions:

  • Familiarity with hereditary GI cancer syndromes is essential for clinicians.
  • Early diagnosis and management through genetic testing and surveillance can significantly improve patient outcomes.
  • These syndromes, while not always highly penetrant, warrant careful consideration in patient evaluation.