Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

Summary

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

Eligibility

Inclusion Criteria:

Probands who meet the following criteria will be eligible:

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

Family members who meet the following criteria will be eligible:

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

Exclusion Criteria:

N/A

Conditions2

Locations1 site

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