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Molecular Basis in Hereditary Colorectal Cancer Syndromes

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Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

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

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No pharmaceutical medication involved common.study.methods.has-drugs-no
Patients and healthy individuals accepted common.study.methods.is-healthy-no

Behavioral - Questionnaires

Consenting Proband Group: Participants fill out questionnaires about work, family history, medical history, and health habits at baseline. It should take about 20 minutes to complete the questionnaires. Participants also complete a health and lifestyle questionnaire, which contains 20 questions for men and 22 questions for women. Questionnaire should take about 10 minutes to complete. Follow-up questionnaire at least 1 time in 5 years to update medical, cancer, and family history. Family Members ...read more on ClinicalTrials.org

Procedure - Blood Draw/Saliva Sample

About 2-3 tablespoons blood drawn. Participants may give a saliva sample instead.

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Molecular Basis for Variations in Hereditary Colorectal Cancer Syndromes

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NCT02863172

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Yer5pd