Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

Description

Objectives: 1. To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome 2. To compare the clinical features, survival outcomes, and health behavior of the proband vs. his/her family members who may or may not be affected by the hereditary colorectal cancer syndrome 3. To explore for correlations between germline genetic variations in both the probands and family members with observed variations in the overall disease phenotype across probands and kindreds, within a given syndrome. Disease phenotype is defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers. Genetic variations may include the specific codon mutated, the type of mutation and sequence alteration (e.g. nonsense, missense etc), chromosomal/gene copy number changes, and gene polymorphisms. 4. To explore for correlations between germline genetic variations in both the probands and family members with observed variations in somatic CRC tumor biology, including tumor pathology and other tumor molecular markers

Conditions

Hereditary Colorectal Cancer Syndrome

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Study Overview

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Study Details

Study overview

Objectives: 1. To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome 2. To compare the clinical features, survival outcomes, and health behavior of the proband vs. his/her family members who may or may not be affected by the hereditary colorectal cancer syndrome 3. To explore for correlations between germline genetic variations in both the probands and family members with observed variations in the overall disease phenotype across probands and kindreds, within a given syndrome. Disease phenotype is defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers. Genetic variations may include the specific codon mutated, the type of mutation and sequence alteration (e.g. nonsense, missense etc), chromosomal/gene copy number changes, and gene polymorphisms. 4. To explore for correlations between germline genetic variations in both the probands and family members with observed variations in somatic CRC tumor biology, including tumor pathology and other tumor molecular markers

Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

Condition
Hereditary Colorectal Cancer Syndrome
Intervention / Treatment

-

Contacts and Locations

Houston

University of Texas MD Anderson Cancer Center, Houston, Texas, United States, 77330

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Patient must have or is suspected to have a hereditary CRC syndrome
  • 2. Patient must be at least 18 years of age at the time of study registration.
  • 3. Patient must have sufficient command of the English language and mental capacity to provide consent
  • 1. First- or second-degree relative of a registered MDACC patient who has met eligibility criteria for a Proband as defined above.
  • 2. Family member must be at least 18 years of age at the time of study registration.
  • 3. Family member must have sufficient command of the English language and mental capacity to provide consent

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

M.D. Anderson Cancer Center,

Yi-Qian N. You, MD, PRINCIPAL_INVESTIGATOR, M.D. Anderson Cancer Center

Study Record Dates

2025-05-30