Identification and Analysis of Families with Genetic Susceptibility to Cancer

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Study Overview

This study is designed to find and characterize genes that may be involved in the development of familiar cancer. The research laboratory at the Abramson Cancer Center is studying genetic sources of cancer risk and currently has one of the largest collections (also called a registry) of families with known or suspected risk in the world.
You are eligible for the Registry if any of the following apply to you:
  • You or a family member have any of the following types of mutations:
  •  BRCA1 or BRCA2, or a BRCA1/2 variant of uncertain significance
  • A gene mutation or variant linked to a heritable gastrointestinal syndrome (such as Lynch Syndrome)
  • An inherited mutation or variant in another cancer risk gene
  • Personal diagnosis of breast cancer at age 40 or below
  • Personal diagnosis of bilateral breast cancer under age 60
  • Personal diagnosis of "triple negative" breast cancer under age 60, DCIS excluded (triple negative breast cancer is estrogen receptor negative, progesterone receptor negative, Her2/neu negative)
  • Personal diagnosis of breast cancer at any age with three or more breast cancers under age 70 in first, second, or third degree relatives on the same side of the family
  • Male breast cancer diagnosed at any age
  • Personal diagnosis of ovarian cancer under age 50
  • Personal diagnosis of ovarian cancer at any age and one relative with ovarian cancer diagnosed under age 50
  • Personal diagnosis of breast cancer under age 60 and a first, second, or third degree relative with ovarian cancer diagnosed at any age
  • Personal diagnosis of multiple primary cancer (breast and ovarian cancers) at any age
  • Personal diagnosis of breast cancer under age 70 and a first, second, or third degree relative with multiple primary cancer (breast and ovarian cancers) at any age
  • Personal diagnosis of breast cancer at any age and a second primary cancer, both diagnosed under age 70.  The second primary cancer cannot be a recurrence or metastasis of the breast cancer and cannot be skin cancer, with the exception of melanoma.
  • Personal diagnosis of pancreatic cancer under age 50
  • Personal diagnosis of pancreatic cancer at any age and at least one first or second degree relative with breast or pancreatic cancer diagnosed under age 50
  • Personal diagnosis of metastatic prostate cancer or Gleason score of 8 or higher
  • Personal diagnosis of prostate cancer (Gleason score of 7 or higher) and at least one first or second degree relative with breast, pancreatic, or ovarian cancer


Study Description

Participation involves providing medical and family history, access to stored tumor block material (if you have had a cancer) and a DNA saliva sample. There are no costs associated with participation and all arrangements can be made over the telephone or through the mail. Travel to the University of Pennsylvania is not necessary for participation.
Your contribution to this study will be to further research and the understanding of genetic risk for cancer, and you personally may not receive information from this study. To determine if you're eligible and/or enroll in the study please go to https://www.basser.org/patients-and-families/Research-Opportunities (Research Registry: Identification and Analysis of Families With Genetic Susceptibility To Cancer).

  • Study Identifier: 376800

Recruitment Status

Open

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