SJFAMILY: Study of Cancer in Families

Familial Investigations of Childhood Cancer Predisposition


Genetics & Genomics

Diseases Treated:

Non-therapeutic clinical trial

Eligibility Overview:

This is a non-therapeutic clinical trial that is open to children and adults with familial cancer and to their eligible family members.

Note: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing, please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for the SJFAMILY study, you may enroll regardless of the results of your clinical genetic testing.

In this research study, the definition of “Familial Cancer” is met if any of the following is present:

  • An individual and at least one first, second or third degree relative, each with a history of cancer diagnosed under 50 years of age; OR
  • An individual under 50 years of age with more than one cancers; OR
  • An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome

Eligible individuals include:

  • An individual who meets the definition of “Familial Cancer,” as above
  • Blood relatives of the above individual with familial cancer, who are affected or unaffected by cancer
  1. Brief Summary

    Approximately 10% of all cancers are currently attributed to mutations at the germline level, but an underlying genetic cause for the large proportion of familial cancers is not known yet. Family-based studies combining whole genome or whole exome sequencing provide a unique opportunity to discover new cancer predisposing genes. These findings enable providers to offer genetic counseling and testing for at-risk family members, share information about risk of disease recurrence, and inform clinical treatment decisions and early detection surveillance.

    This study will employ high throughput sequencing approaches, including whole exome and/or whole genome sequencing, to identify novel predisposing mutations in individuals and relatives with familial cancer of undetermined origin. Researchers also plan to use similar sequencing approaches to identify novel genes and/or germline genetic variants that influence disease penetrance and/or expression in individuals with known cancer predisposition syndromes. Investigators will also generate induced Pluripotent Stem Cells (iPSC) from selected individuals to probe how germline genetic mutations influence cell biology and tumor formation.

    Biological samples will be stored in the St. Jude Biorepository, and St. Jude will provide study participants genetic counseling to interpret and communicate genetic risk information.

    Primary Objective

    • To establish a Data Registry linked to a Repository of biological samples to facilitate genomic investigations of familial cancer

    Secondary Objective

    • To use DNA samples from this biorepository to identify novel genetic causes of familial cancer

    Eligibility Criteria

    This is a non-therapeutic clinical trial that is open to children or adults with familial cancer and their eligible family members. Participation is open to patients at St. Jude and outside institutions. Interested individuals can be referred by their provider or they can contact study staff directly.

    Inclusion criteria include:

    • Meets the SJFAMILY definition of “familial cancer”:
      • At least one first, second or third degree relative, each with a history of neoplasm* diagnosed under 50 years of age; OR
      • Younger than 50 years old with multiple primary neoplasms* (i.e., cancers occurring in paired organs such as bilateral renal cancers, or ALL followed by early onset breast cancer); OR
      • Clinical or molecular diagnosis of a known cancer predisposition syndrome
    • Relatives of above individual,  either affected or unaffected by cancer

    * Excluding human papilloma virus (HPV)-associated cervical cancer and adult non-melanoma skin cancer

    Exclusion Criteria include:

    • Allogeneic bone marrow transplantation and no pre-transplant germline (cancer-unaffected) DNA stored in a biorepository

    Study Sites

    St. Jude Children’s Research Hospital
    Memphis, Tennessee

  2. About this study

    This study will collect blood and health information to help researchers learn more about the genetic causes of cancer, especially when it appears to run in families. This type of cancer is called “familial cancer.”

    Genes make up the genetic code of human cells. Genes are spelled with letters of DNA and tell the cells of our bodies how to grow, develop and function. A genome is a person’s complete set of genes. A procedure called gene sequencing “reads” each letter of DNA to find changes in genes. Each person’s DNA is unique. Changes in DNA can lead to cancer and other diseases.

    Purpose of this clinical trial

    The main purpose of this trial is to learn about the genetic causes of cancer. For this, we would like to gather health information and collect blood and unused tumor samples (if available). Researchers may study these genetic samples now or in the future. Their findings may lead to new and better ways to diagnose and care for people with familial cancer.

    Eligibility overview

    • A  child or an adult under the age of 50 with a personal history of cancer and a family history of cancer in at least one close blood relative
    • Relatives of either affected or unaffected with cancer who are interested and willing in enrolling
  3. SJFAMILY  Quick View
    Sponsor St. Jude Children’s Research Hospital identifier NCT03050268
    Estimated enrollment 30-50 families per year
    Study type Non-therapeutic
    Conditions Cancer 
    Ages Younger than 50 years old
    Principal investigator Chimene Kesserwan, MD
    Study site St. Jude Children’s Research Hospital
    For a consultation or to discuss SJFAMILY
    St. Jude Physician/Patient Referral Office

St. Jude Children’s Research Hospital
262 Danny Thomas Place
Memphis, TN 38105  USA
Voice: 1-888-226-4343 or 901-595-4055
24-Hour Emergency Access Pager: 1-800-349-4334

The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.