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Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma


N/A
N/A
N/A
Open (Enrolling)
Both
Retinoblastoma

Thank you

Trial Information

Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma


OBJECTIVES:

- 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.

- 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.

- 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.

- 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.

- 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.

- 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.

- 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.

Inclusion Criteria


DISEASE CHARACTERISTICS:

- 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 NOTE: *Wills Eye Hospital is no longer a participating
center as of 1/22/09

- 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

PATIENT CHARACTERISTICS:

- Must reside in the U.S. or Canada

- Must have telephone in the home

- Biological parent speaks English or Spanish

PRIOR CONCURRENT THERAPY:

- Concurrent treatment on a therapeutic trial is NOT required

Type of Study:

Observational

Study Design:

N/A

Outcome Measure:

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

Safety Issue:

No

Principal Investigator

Greta R. Bunin, PhD

Investigator Role:

Study Chair

Investigator Affiliation:

Children's Hospital of Philadelphia

Authority:

Unspecified

Study ID:

CDR0000588296

NCT ID:

NCT00690469

Start Date:

June 2008

Completion Date:

Related Keywords:

  • Retinoblastoma
  • extraocular retinoblastoma
  • intraocular retinoblastoma
  • recurrent retinoblastoma
  • Retinoblastoma

Name

Location

Memorial Sloan-Kettering Cancer CenterNew York, New York  10021
Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania  19104
Mayo Clinic Cancer CenterRochester, Minnesota  55905
Barbara Ann Karmanos Cancer InstituteDetroit, Michigan  48201
University of Texas Health Science Center at San AntonioSan Antonio, Texas  78284-7811
Holden Comprehensive Cancer Center at University of IowaIowa City, Iowa  52242-1002
Ellis Fischel Cancer Center at University of Missouri - ColumbiaColumbia, Missouri  65203
Cleveland Clinic Taussig Cancer CenterCleveland, Ohio  44195
Children's Mercy HospitalKansas City, Missouri  64108
Nemours Children's ClinicJacksonville, Florida  32207
All Children's HospitalSt. Petersburg, Florida  33701
Children's Memorial Hospital - ChicagoChicago, Illinois  60614
Driscoll Children's HospitalCorpus Christi, Texas  78466
Cook Children's Medical Center - Fort WorthFort Worth, Texas  76104
Children's Hospital Central CaliforniaMadera, California  93638-8762
Nemours Children's Clinic - OrlandoOrlando, Florida  32806
St. Joseph's Cancer Institute at St. Joseph's HospitalTampa, Florida  33607
Cincinnati Children's Hospital Medical CenterCincinnati, Ohio  45229-3039
Rainbow Babies and Children's HospitalCleveland, Ohio  44106-5000
Texas Tech University Health Sciences Center School of Medicine - AmarilloAmarillo, Texas  79106
Childrens Hospital Los AngelesLos Angeles, California  90027
UCSF Helen Diller Family Comprehensive Cancer CenterSan Francisco, California  94115
Alfred I. duPont Hospital for ChildrenWilmington, Delaware  19803
Lombardi Comprehensive Cancer Center at Georgetown University Medical CenterWashington, District of Columbia  20007
AFLAC Cancer Center and Blood Disorders Service of Children's Healthcare of Atlanta - Egleston CampusAtlanta, Georgia  30322
University of Illinois Cancer CenterChicago, Illinois  60612-7243
Lucille P. Markey Cancer Center at University of KentuckyLexington, Kentucky  40536-0093
Masonic Cancer Center at University of MinnesotaMinneapolis, Minnesota  55455
University of Mississippi Cancer ClinicJackson, Mississippi  39216-4505
Siteman Cancer Center at Barnes-Jewish Hospital - Saint LouisSt. Louis, Missouri  63110
CCOP - Nevada Cancer Research FoundationLas Vegas, Nevada  89109-2306
University of New Mexico Cancer CenterAlbuquerque, New Mexico  87131-5636
Nationwide Children's HospitalColumbus, Ohio  43205-2696
Children's Hospital of Pittsburgh of UPMCPittsburgh, Pennsylvania  15213
Riley's Children Cancer Center at Riley Hospital for ChildrenIndianapolis, Indiana  46202-5225
University of Miami Sylvester Comprehensive Cancer Center - MiamiMiami, Florida  33136
Duke Cancer InstituteDurham, North Carolina  27710
Children's Hospital Colorado Center for Cancer and Blood DisordersAurora, Colorado  80045
Nemours Children's Clinic - PensacolaPensacola, Florida  32504
Helen DeVos Children's Hospital at Spectrum HealthGrand Rapids, Michigan  49503