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



Status:Completed
Conditions:Brain Cancer
Therapuetic Areas:Oncology
Healthy:No
Age Range:Any
Updated:7/22/2018
Start Date:June 2, 2008

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Carcinogen Metabolism, DNA Repair, Parental Exposures and Retinoblastoma

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.

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.

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
We found this trial at
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1201 Camino de Salud Northeast
Albuquerque, New Mexico 87131
(505) 272-4946
University of New Mexico Cancer Center It’s been 40 years since the New Mexico State...
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3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229
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11100 Euclid Avenue
Cleveland, Ohio 44106
(216) 844-1000
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700 Childrens Drive
Columbus, Ohio 43205
(616) 722-2000
Nationwide Children's Hospital At Nationwide Children’s, we are creating the future of pediatric health care....
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3533 South Alameda Street
Corpus Christi, Texas 78411
(361) 694-5000
Driscoll Children's Hospital Driscoll Children's Hospital was built because Clara Driscoll's will requested that a...
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100 Michigan Street Northeast
Grand Rapids, Michigan 49503
616.391.9000
Helen DeVos Children's Hospital at Spectrum Health Helen DeVos Children's Hospital, located in Grand Rapids,...
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282 Washington St
Hartford, Connecticut 06106
(860) 545-9000
Connecticut Children's Medical Center Connecticut Children’s Medical Center is a nationally recognized, 187-bed not-for-profit children’s...
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2500 N State St
Jackson, Mississippi 39216
(601) 984-1000
University of Mississippi Medical Center The University of Mississippi Medical Center, located in Jackson, is...
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2401 Gillham Rd
Kansas City, Missouri 64108
(816) 234-3000
Children's Mercy Hospital Children's Mercy Hospitals and Clinics continues redefining pediatric medicine throughout the Midwest...
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4650 Sunset Blvd
Los Angeles, California 90027
 (323) 660-2450
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9300 Valley Children's Pl
Madera, California 93720
(559) 353-3000
Children's Hospital Central California The Children's Hospital Central California is a not-for-profit, state-of-the-art children’s hospital...
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1717 South Orange Avenue # 100
Orlando, Florida 32806
(407) 650-7000
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5153 North 9th Avenue
Pensacola, Florida 32504
(850) 505-4700
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
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4401 Penn Avenue
Pittsburgh, Pennsylvania 15224
412-692-5325
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4502 Medical Drive
San Antonio, Texas 78284
(210) 567-7000
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1600 Rockland Road
Wilmington, Delaware 19803
(302) 651-4200
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13123 E 16th Ave
Aurora, Colorado 80045
(720) 777-1234
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Chicago, Illinois 60614
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1200 West Harrison Stree
Chicago, Illinois 60607
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2049 E 100th St
Cleveland, Ohio 44106
(216) 444-2200
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Columbia, Missouri 65201
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1 Hospital Dr
Columbia, Missouri 65212
(573) 882-2100
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Dayton, Ohio 45404
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4160 John R St #2122
Detroit, Michigan 48201
(313) 833-1785
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2301 Erwin Rd
Durham, North Carolina 27710
919-684-8111
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801 7th Avenue
Fort Worth, Texas 76104
(682) 885-4000
Cook Children's Medical Center Cook Children's Health Care System is a not-for-profit, nationally recognized pediatric...
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100 Michigan St NE
Grand Rapids, Michigan 49503
(616) 391-1774
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705 Riley Hospital Dr
Indianapolis, Indiana 46202
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535 Barnhill Dr
Indianapolis, Indiana 46202
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Jacksonville, Florida 32207
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601 South Rancho Drive Suite C-26
Las Vegas, Nevada 89106
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Minneapolis, Minnesota 55455
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1275 York Ave
New York, New York 10021
(212) 639-2000
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Pensacola, Florida 32504
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Rochester, Minnesota 55905
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660 S Euclid Ave
Saint Louis, Missouri 63110
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Saint Petersburg, Florida 33701
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San Francisco, California 94115
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San Francisco, California 94143
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Vancouver, British Columbia
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Washington, District of Columbia 20007
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901 45th St
West Palm Beach, Florida 33407
(561) 844-6300
Saint Mary's Hospital Our team of dedicated physicians, nurses and staff offer a broad spectrum...
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