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.
Observational
N/A
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
No
Greta R. Bunin, PhD
Study Chair
Children's Hospital of Philadelphia
Unspecified
CDR0000588296
NCT00690469
June 2008
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 |