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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 Center New York, New York  10021
Children's Hospital of Philadelphia Philadelphia, Pennsylvania  19104
Mayo Clinic Cancer Center Rochester, Minnesota  55905
Barbara Ann Karmanos Cancer Institute Detroit, Michigan  48201
University of Texas Health Science Center at San Antonio San Antonio, Texas  78284-7811
Holden Comprehensive Cancer Center at University of Iowa Iowa City, Iowa  52242-1002
Ellis Fischel Cancer Center at University of Missouri - Columbia Columbia, Missouri  65203
Cleveland Clinic Taussig Cancer Center Cleveland, Ohio  44195
Children's Mercy Hospital Kansas City, Missouri  64108
Nemours Children's Clinic Jacksonville, Florida  32207
All Children's Hospital St. Petersburg, Florida  33701
Children's Memorial Hospital - Chicago Chicago, Illinois  60614
Driscoll Children's Hospital Corpus Christi, Texas  78466
Cook Children's Medical Center - Fort Worth Fort Worth, Texas  76104
Children's Hospital Central California Madera, California  93638-8762
Nemours Children's Clinic - Orlando Orlando, Florida  32806
St. Joseph's Cancer Institute at St. Joseph's Hospital Tampa, Florida  33607
Cincinnati Children's Hospital Medical Center Cincinnati, Ohio  45229-3039
Rainbow Babies and Children's Hospital Cleveland, Ohio  44106-5000
Texas Tech University Health Sciences Center School of Medicine - Amarillo Amarillo, Texas  79106
Childrens Hospital Los Angeles Los Angeles, California  90027
UCSF Helen Diller Family Comprehensive Cancer Center San Francisco, California  94115
Alfred I. duPont Hospital for Children Wilmington, Delaware  19803
Lombardi Comprehensive Cancer Center at Georgetown University Medical Center Washington, District of Columbia  20007
AFLAC Cancer Center and Blood Disorders Service of Children's Healthcare of Atlanta - Egleston Campus Atlanta, Georgia  30322
University of Illinois Cancer Center Chicago, Illinois  60612-7243
Lucille P. Markey Cancer Center at University of Kentucky Lexington, Kentucky  40536-0093
Masonic Cancer Center at University of Minnesota Minneapolis, Minnesota  55455
University of Mississippi Cancer Clinic Jackson, Mississippi  39216-4505
Siteman Cancer Center at Barnes-Jewish Hospital - Saint Louis St. Louis, Missouri  63110
CCOP - Nevada Cancer Research Foundation Las Vegas, Nevada  89109-2306
University of New Mexico Cancer Center Albuquerque, New Mexico  87131-5636
Nationwide Children's Hospital Columbus, Ohio  43205-2696
Children's Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania  15213
Riley's Children Cancer Center at Riley Hospital for Children Indianapolis, Indiana  46202-5225
University of Miami Sylvester Comprehensive Cancer Center - Miami Miami, Florida  33136
Duke Cancer Institute Durham, North Carolina  27710
Children's Hospital Colorado Center for Cancer and Blood Disorders Aurora, Colorado  80045
Nemours Children's Clinic - Pensacola Pensacola, Florida  32504
Helen DeVos Children's Hospital at Spectrum Health Grand Rapids, Michigan  49503