Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers

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Brief Title

Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers

Official Title

Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma

Brief Summary

      This laboratory study is looking at genetic mutations and environmental exposure in young
      patients with retinoblastoma and in their parents and young healthy unrelated volunteers.
      Gathering information about gene mutations and environmental exposure may help doctors learn
      more about the causes of retinoblastoma in young patients.

Detailed Description

      OBJECTIVES:

      I. To investigate the role of genotypes for carcinogen metabolizing enzymes (CME) and DNA
      repair proteins(DRPs) of the father of children diagnosed with retinoblastoma (RB) and his
      environmental exposures prior to the child?s conception in the etiology of sporadic bilateral
      retinoblastoma.

      II. To test if the prevalence of preconception environmental exposures and polymorphisms with
      known or predicted functional consequences in genes for CMEs and DRPs is different in fathers
      of children with sporadic bilateral RB compared with fathers of the control group.

      III. To test if the prevalence of the father?s preconception environmental exposures and his
      polymorphisms in CMEs and DRPs differs between subsets of cases defined by the type of
      mutation at the RB1 gene locus.

      IV. To investigate the role of genotypes for CMEs and DRPs of the mother and child and
      environmental exposures after the child?s conception in the etiology of sporadic unilateral
      RB.

      V. To test if the prevalence of environmental exposures during the pregnancy and
      polymorphisms with known or predicted functional consequences in CMEs is different in the
      mothers of children with sporadic unilateral RB compared with mothers of the control group.

      VI. To test if the prevalence of polymorphisms in genes for CMEs and DRPs with known or
      predicted functional consequences is different in the children with sporadic unilateral RB
      compared with controls.

      VII. To test if the prevalence of gestational exposures and polymorphisms in genes for CMEs
      of the mother and the polymorphisms in genes for CME and DRPs in the children differs between
      subsets of cases defined by the type of mutation at the RB1 gene locus.

      OUTLINE: This is a multicenter study.

      Participants undergo a structured telephone interview questionnaire. The parental
      questionnaires collect basic demographic data (including age, race, education, and income),
      occupational history, medical radiation exposure, diet and supplement use (for the year
      before pregnancy for father, during pregnancy for mother), tobacco use, and alcohol use. The
      mothers are also asked about residential pesticides and prior assisted reproductive
      technology.

      Controls (parents) provide saliva samples. If a patient is also enrolled on COG-ARET0332,
      then the patient blood and tumor samples should be submitted. Parents of patients on this
      protocol should also submit a blood sample. Blood samples from the affected child, and blood
      and/or sputum samples from the parents may be submitted. Tumor specimens should be submitted
      if available.

      For some patients, a RB1 mutation detection assay on DNA derived from peripheral blood is
      performed. If the mutation is found, the parents? DNA is also screened. Blood samples undergo
      DNA-based sequencing analysis, single nucleotide polymorphism genotyping, quantitative
      Southern blot analysis, isolation of RNA and reverse transcriptase-polymerase chain reaction
      analysis, and loss of heterozygosity analysis.

Study Type

Observational

Primary Outcome

Association of the probability of having a child with bilateral retinoblastoma (RB) with the paternal genotype for selected DNA repair and carcinogen metabolizing enzymes (CME) genes

Condition

Extraocular Retinoblastoma

Intervention

Laboratory Biomarker Analysis

Study Arms / Comparison Groups

 Observational (biomarker analysis)
Description:  Participants undergo a structured telephone interview questionnaire. The parental questionnaires collect basic demographic data (including age, race, education, and income), occupational history, medical radiation exposure, diet and supplement use (for the year before pregnancy for father, during pregnancy for mother), tobacco use, and alcohol use. The mothers are also asked about residential pesticides and prior assisted reproductive technology.
Controls (parents) provide saliva samples. If a patient is also enrolled on COG-ARET0332, then the patient blood and tumor samples should be submitted. Parents of patients on this protocol should also submit a blood sample. Blood samples from the affected child, and blood and/or sputum samples from the parents may be submitted. Tumor specimens should be submitted if available.
For some patients, a RB1 mutation detection assay on DNA derived from peripheral blood is performed. If the mutation is found, the parents? DNA is also screened.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Other

Estimated Enrollment

234

Start Date

June 2, 2008

Primary Completion Date

September 1, 2015

Eligibility Criteria

        Inclusion Criteria:

          -  Cases must meet the following criteria:

               -  Diagnosed with sporadic retinoblastoma (RB) on or after 07/01/2006

                    -  No familial retinoblastoma

               -  Have permission of physician to contact the parents

               -  Diagnosed and/or treated at a Children's Oncology Group (COG) institution or
                  *Wills Eye Hospital

          -  Controls must meet 1 of the following criteria:

               -  Mother of a child with unilateral RB

               -  Father of a child with bilateral RB

               -  Age-matched non-blood-related child if possible

          -  Must reside in the U.S. or Canada

          -  Must have telephone in the home

          -  Biological parent speaks English or Spanish

          -  Concurrent treatment on a therapeutic trial is NOT required

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Greta Bunin, ,

Location Countries

Canada

Location Countries

Canada

Administrative Informations

NCT ID

NCT00690469

Organization ID

AEPI05N1

Secondary IDs

NCI-2009-00366

Responsible Party

Sponsor

Study Sponsor

Children's Oncology Group

Collaborators

 National Cancer Institute (NCI)

Study Sponsor

Greta Bunin, Principal Investigator, Children's Oncology Group

Verification Date

July 2018