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Hereditary Colorectal Cancer.

Heather Hampel1, Matthew F Kalady2, Rachel Pearlman3

  • 1Division of Human Genetics, Biospecimen Research, Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2012 Kenny Road, Room 257, Columbus, OH 43221, USA.

Hematology/Oncology Clinics of North America
|May 16, 2022
PubMed
Summary
This summary is machine-generated.

Approximately 10-16% of colorectal cancer patients harbor pathogenic variants in cancer susceptibility genes. These genetic alterations define hereditary colorectal cancer syndromes, categorized into nonpolyposis and polyposis types.

Keywords:
CancerColorectalHereditaryLynch syndromePolyposis

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Area of Science:

  • Genetics
  • Oncology
  • Hereditary Cancer Syndromes

Background:

  • 10-16% of colorectal cancer (CRC) patients possess pathogenic variants in cancer susceptibility genes.
  • These variants can be in CRC-associated genes or non-CRC-associated genes.
  • Hereditary CRC syndromes are broadly classified into nonpolyposis and polyposis categories.

Purpose of the Study:

  • To detail the classification and characteristics of hereditary colorectal cancer syndromes.
  • To provide a comprehensive overview of genetic predispositions to colorectal cancer.

Main Methods:

  • Review and synthesis of existing literature on hereditary colorectal cancer.
  • Classification of syndromes based on clinical presentation and genetic factors.
  • Detailed description of nonpolyposis and polyposis conditions.

Main Results:

  • Nonpolyposis syndromes are subcategorized into those with and without defective mismatch repair.
  • Polyposis syndromes are classified by predominant histology: adenomatous, hamartomatous, serrated, and mixed.
  • The study provides a detailed description of each hereditary colorectal cancer syndrome.

Conclusions:

  • Understanding the genetic basis of colorectal cancer is crucial for diagnosis and management.
  • Accurate classification of hereditary syndromes aids in risk assessment and targeted therapies.
  • This work serves as a detailed resource for hereditary colorectal cancer conditions.