Clinical and Laboratory Analysis of Familial Cancer

Background:

• This study is to continue the analysis begun on 09C0079 which was focused on identification of the genetic mutation associated with a new gastric polyposis syndrome, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).
• GAPPS is an autosomal dominant gastric polyposis syndrome that confers a substantial risk for gastric adenocarcinoma and has been found to be associated with germline point variants in APC promoter 1B.
• At this time, any non-gastric phenotype associated with GAPPS is unknown and is being explored using a phenotyping survey interview.

Objective

- To specifically investigate families with clusters of cancer to determine if there is a potential familial genetic mutation specific to a particular cancer and if present, to compare these genetic abnormalities with individuals from the same family without cancer.

Eligibility:

• Participants must meet one of the following:

  • Have been previously enrolled on the familial genetic analysis arm of NIH study 09-C-0079; OR
  • Be family members of patients previously enrolled on the familial genetic analysis arm of 09-C-0079; OR
  • Have a documented pathogenic germline APC promotor 1B variant from a CLIA approved laboratory.
• Participants must be 10 years of age or older

Design:

• This protocol was originally opened to continue same use of research that was approved under protocol 09-C-0079, to analyze the data for publication, and to provide participants with any results of clinical and analytic validity and clinical utility.
• In a subsequent amendment carriers of a germline APC promoter 1B variant will participate in a phenotyping assessment survey interview to assess the phenotype of Gastric Adenocarcinoma and Proximal Polypopsis of the Stomach (GAPPS).