ID

45666

Description

Principal Investigator: Katherine McGlynn, National Institutes of Health, Bethesda, MD, USA MeSH: Germinoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001303 *Case-Control Study:* Testicular germ cell cancer has been increasing among men during most of the 20th century. Despite this increase, the etiology of testicular cancer is poorly understood. To better understand the molecular epidemiology of testicular cancer, the National Cancer Institute and the Department of Defense are conducting a case-control study of testicular cancer among military servicemen. The project includes obtaining biosamples and questionnaire data from all participants. Pre-diagnostic serum samples are available from the approximately 1,000 cases and 1,000 controls enrolled in the study. *Multiple-Case Family Study:* In a parallel project, we are also studying families in which 2 or more testicular cancers have occurred. Among those men diagnosed with testicular cancer, about 1-3 percent report a family history of the disease (FTGCT). Brothers of affected individuals are 8 to 10 times more likely to develop testicular cancer, and men whose fathers had testicular cancer are four times more likely to develop testicular cancer, when compared with the relatives of men who have never had testicular cancer. Large-scale genetic linkage studies have failed to identify one or more rare, highly-penetrant testicular susceptibility genes. Rather, it appears that these familial clusters are due to the combined effects of multiple more common genes with low penetrance (so-called "polygenic inheritance"). Our cohort of FTGCT families was assembled to characterize this syndrome's clinical phenotype, and to discover the full range of cancer susceptibility loci that influence TGCT pathogenesis.

Link

dbGaP-study=phs001303

Keywords

Versions (1)
  1. 3/31/23 3/31/23 - Chiara Middel
Copyright Holder

Katherine McGlynn, National Institutes of Health, Bethesda, MD, USA

Uploaded on

March 31, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001303 GWAS of Sporadic and Familial Testicular Germ Cell Tumors

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Case-Control Study:* The study was designed as a pair-matched, case-control study, although additional controls were initially identified because of the transient nature of the military population. By use of the computerized Defense Medical Surveillance System database, all available controls were identified for each potential case participant. From the list of possible controls, four individuals who matched each case on age (within 1 year), race (White, Black, other), and date of available serum sample (within 30 days) were chosen at random as the control set. The first man on the list was designated as the primary control. Every attempt was made to enroll this man for 30 days (average number of attempted contacts = 90). The effort included tracing attempts, multiple letters, and telephone calls. If the man could not be traced, was deployed to a combat zone, was deceased, refused to participate, or could not be contacted within a 30-day period, attempts were begun to enroll the next possible control in the set.
Description

Elig.phs001303.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C0007328
UMLS CUI [1,2]
C0085145
UMLS CUI [1,3]
C1524062
UMLS CUI [1,4]
C2986479
UMLS CUI [1,5]
C0205374
UMLS CUI [1,6]
C0441833
UMLS CUI [1,7]
C0026126
UMLS CUI [2,1]
C3841595
UMLS CUI [2,2]
C2986479
UMLS CUI [2,3]
C0600091
UMLS CUI [2,4]
C1698493
UMLS CUI [3,1]
C0332149
UMLS CUI [3,2]
C2986479
UMLS CUI [3,3]
C1707391
UMLS CUI [3,4]
C1708943
UMLS CUI [3,5]
C0001779
UMLS CUI [3,6]
C0034510
UMLS CUI [3,7]
C0011008
UMLS CUI [3,8]
C0200345
UMLS CUI [4,1]
C0205435
UMLS CUI [4,2]
C2986479
UMLS CUI [4,3]
C0745732
UMLS CUI [4,4]
C0205225
UMLS CUI [4,5]
C0009932
UMLS CUI [5,1]
C1516084
UMLS CUI [5,2]
C1516879
UMLS CUI [5,3]
C0449238
UMLS CUI [5,4]
C0439231
UMLS CUI [5,5]
C0332257
UMLS CUI [5,6]
C0243095
UMLS CUI [5,7]
C0439064
UMLS CUI [5,8]
C0024492
UMLS CUI [5,9]
C0302186
UMLS CUI [6,1]
C1272705
UMLS CUI [6,2]
C1516084
UMLS CUI [6,3]
C1516879
UMLS CUI [6,4]
C2135356
UMLS CUI [6,5]
C1555024
UMLS CUI [6,6]
C1136454
UMLS CUI [6,7]
C0439659
UMLS CUI [6,8]
C1516879
UMLS CUI [6,9]
C0205436
UMLS CUI [6,10]
C2986479
The database linkage identified 961 cases who appeared to meet the study criteria. Further review found that 76 men could not be traced, 27 had died, three were known to be deployed to a combat zone, and two were found ineligible, leaving 853 possible participants. Of these men, 22 were in the process of being contacted when the study closed. Thus, of the 831 men contacted, 754 agreed to participate, resulting in a participation rate of 91 percent. In the instances where the potential case was deceased, the study attempted to obtain proxy information from the man's mother. Thirteen proxy questionnaires were completed by the mothers of the 27 deceased men. Among the controls, 2,579 were evaluated for inclusion. Of these men, 385 men could not be traced, 18 had died, 64 were known to be deployed to a combat zone, and two were found to be ineligible. In addition, 928 could not be contacted within 30 days. Of the remaining 1,182 men, 32 were in the process of being contacted when the study closed. Thus, of the 1,150 men contacted, 928 agreed to participate, resulting in a participation rate of 81 percent. Among the 754 cases and 928 controls, there were 720 matched case-control pairs.
Description

Elig.phs001303.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0242356
UMLS CUI [1,2]
C0600091
UMLS CUI [1,3]
C0868928
UMLS CUI [1,4]
C1550543
UMLS CUI [1,5]
C0243161
UMLS CUI [1,6]
C1698493
UMLS CUI [2,1]
C1265611
UMLS CUI [2,2]
C1698493
UMLS CUI [2,3]
C1299582
UMLS CUI [2,4]
C0243095
UMLS CUI [3,1]
C1265611
UMLS CUI [3,2]
C1698493
UMLS CUI [3,3]
C1555024
UMLS CUI [4,1]
C1265611
UMLS CUI [4,2]
C1698493
UMLS CUI [4,3]
C2135356
UMLS CUI [5,1]
C1265611
UMLS CUI [5,2]
C1698493
UMLS CUI [5,3]
C5236167
UMLS CUI [6,1]
C1698493
UMLS CUI [6,2]
C0679823
UMLS CUI [6,3]
C1521828
UMLS CUI [7,1]
C3245505
UMLS CUI [7,2]
C1698493
UMLS CUI [7,3]
C1555024
UMLS CUI [7,4]
C1516084
UMLS CUI [7,5]
C1301820
UMLS CUI [7,6]
C0600420
UMLS CUI [7,7]
C1533716
UMLS CUI [7,8]
C0026591
UMLS CUI [8,1]
C1265611
UMLS CUI [8,2]
C0600420
UMLS CUI [8,3]
C0034394
UMLS CUI [9,1]
C1265611
UMLS CUI [9,2]
C0600091
UMLS CUI [9,3]
C1550543
UMLS CUI [9,4]
C0243161
UMLS CUI [9,5]
C2986479
UMLS CUI [10,1]
C1265611
UMLS CUI [10,2]
C2986479
UMLS CUI [10,3]
C1299582
UMLS CUI [10,4]
C0243095
UMLS CUI [11,1]
C1265611
UMLS CUI [11,2]
C2986479
UMLS CUI [11,3]
C1555024
UMLS CUI [12,1]
C1265611
UMLS CUI [12,2]
C2986479
UMLS CUI [12,3]
C2135356
UMLS CUI [13,1]
C1265611
UMLS CUI [13,2]
C2986479
UMLS CUI [13,3]
C5236167
UMLS CUI [13,4]
C0679823
UMLS CUI [14,1]
C2986479
UMLS CUI [14,2]
C0679823
UMLS CUI [14,3]
C1521828
UMLS CUI [15,1]
C1265611
UMLS CUI [15,2]
C0024907
UMLS CUI [15,3]
C1709450
*Multiple-Case Family Study:* Familial testicular cancer kindred were identified through mailings to the members of health care provider societies who were likely to encounter TGCT patients in the course of their practice, a study-specific website, and various TGCT patient support/family advocacy groups. Criteria for enrollment into the study include at least one of the following: 1) ≥two men in the family had testicular cancer, 2) one family member has bilateral testicular cancer (that is, independent cancers involving both testicles), or 3) one family member with testicular cancer is a member of a set of genetically identical brothers, such as twins or triplets. We have recruited 733 members from 151 multiple-case families, and collected 649 DNA samples for our genetic analyses. Willing families were brought to the NIH Clinical Center for a 2-day, in-person evaluation by our multidisciplinary team. We collected demographic, family history, cancer risk factor and behavioral/psychosocial data, performed TGCT-related imaging studies and collected a variety of biological specimens. Family members who were unable or unwilling to travel to NIH completed study questionnaires and contributed biological specimens in their home communities. We attempted to objectively verify every cancer reported among bloodline family members.
Description

Elig.phs001303.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C0439064
UMLS CUI [1,2]
C1698493
UMLS CUI [1,3]
C0199236
UMLS CUI [2,1]
C0600091
UMLS CUI [2,2]
C0851352
UMLS CUI [2,3]
C0855197
UMLS CUI [2,4]
C0024492
UMLS CUI [2,5]
C0018724
UMLS CUI [2,6]
C2349146
UMLS CUI [2,7]
C0557818
UMLS CUI [2,8]
C0680786
UMLS CUI [3,1]
C1550543
UMLS CUI [3,2]
C1516879
UMLS CUI [3,3]
C0243161
UMLS CUI [3,4]
C0205448
UMLS CUI [3,5]
C0086582
UMLS CUI [3,6]
C0855197
UMLS CUI [4,1]
C1550543
UMLS CUI [4,2]
C1516879
UMLS CUI [4,3]
C0243161
UMLS CUI [4,4]
C0205447
UMLS CUI [4,5]
C0086282
UMLS CUI [4,6]
C0238767
UMLS CUI [4,7]
C0855197
UMLS CUI [5,1]
C1550543
UMLS CUI [5,2]
C1516879
UMLS CUI [5,3]
C0243161
UMLS CUI [5,4]
C0205447
UMLS CUI [5,5]
C0086282
UMLS CUI [5,6]
C0855197
UMLS CUI [5,7]
C1292711
UMLS CUI [5,8]
C0041427
UMLS CUI [6,1]
C1265611
UMLS CUI [6,2]
C0242800
UMLS CUI [6,3]
C1516698
UMLS CUI [6,4]
C0012854
UMLS CUI [7,1]
C0600109
UMLS CUI [7,2]
C0015576
UMLS CUI [7,3]
C0008972
UMLS CUI [7,4]
C1552416
UMLS CUI [7,5]
C4316356
UMLS CUI [7,6]
C0220825
UMLS CUI [7,7]
C1144866
UMLS CUI [8,1]
C0010995
UMLS CUI [8,2]
C0011298
UMLS CUI [8,3]
C0241889
UMLS CUI [8,4]
C0279005
UMLS CUI [8,5]
C0004936
UMLS CUI [8,6]
C0004930
UMLS CUI [8,7]
C0011923
UMLS CUI [8,8]
C0200345
UMLS CUI [9,1]
C0086282
UMLS CUI [9,2]
C1299582
UMLS CUI [9,3]
C0558080
UMLS CUI [9,4]
C0040802
UMLS CUI [9,5]
C0200345
UMLS CUI [9,6]
C0034394
UMLS CUI [9,7]
C4534363
UMLS CUI [10,1]
C1571702
UMLS CUI [10,2]
C1711411
UMLS CUI [10,3]
C0006826
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001303.v1.p1.1
Item
*Case-Control Study:* The study was designed as a pair-matched, case-control study, although additional controls were initially identified because of the transient nature of the military population. By use of the computerized Defense Medical Surveillance System database, all available controls were identified for each potential case participant. From the list of possible controls, four individuals who matched each case on age (within 1 year), race (White, Black, other), and date of available serum sample (within 30 days) were chosen at random as the control set. The first man on the list was designated as the primary control. Every attempt was made to enroll this man for 30 days (average number of attempted contacts = 90). The effort included tracing attempts, multiple letters, and telephone calls. If the man could not be traced, was deployed to a combat zone, was deceased, refused to participate, or could not be contacted within a 30-day period, attempts were begun to enroll the next possible control in the set.
boolean
C0007328 (UMLS CUI [1,1])
C0085145 (UMLS CUI [1,2])
C1524062 (UMLS CUI [1,3])
C2986479 (UMLS CUI [1,4])
C0205374 (UMLS CUI [1,5])
C0441833 (UMLS CUI [1,6])
C0026126 (UMLS CUI [1,7])
C3841595 (UMLS CUI [2,1])
C2986479 (UMLS CUI [2,2])
C0600091 (UMLS CUI [2,3])
C1698493 (UMLS CUI [2,4])
C0332149 (UMLS CUI [3,1])
C2986479 (UMLS CUI [3,2])
C1707391 (UMLS CUI [3,3])
C1708943 (UMLS CUI [3,4])
C0001779 (UMLS CUI [3,5])
C0034510 (UMLS CUI [3,6])
C0011008 (UMLS CUI [3,7])
C0200345 (UMLS CUI [3,8])
C0205435 (UMLS CUI [4,1])
C2986479 (UMLS CUI [4,2])
C0745732 (UMLS CUI [4,3])
C0205225 (UMLS CUI [4,4])
C0009932 (UMLS CUI [4,5])
C1516084 (UMLS CUI [5,1])
C1516879 (UMLS CUI [5,2])
C0449238 (UMLS CUI [5,3])
C0439231 (UMLS CUI [5,4])
C0332257 (UMLS CUI [5,5])
C0243095 (UMLS CUI [5,6])
C0439064 (UMLS CUI [5,7])
C0024492 (UMLS CUI [5,8])
C0302186 (UMLS CUI [5,9])
C1272705 (UMLS CUI [6,1])
C1516084 (UMLS CUI [6,2])
C1516879 (UMLS CUI [6,3])
C2135356 (UMLS CUI [6,4])
C1555024 (UMLS CUI [6,5])
C1136454 (UMLS CUI [6,6])
C0439659 (UMLS CUI [6,7])
C1516879 (UMLS CUI [6,8])
C0205436 (UMLS CUI [6,9])
C2986479 (UMLS CUI [6,10])
Elig.phs001303.v1.p1.2
Item
The database linkage identified 961 cases who appeared to meet the study criteria. Further review found that 76 men could not be traced, 27 had died, three were known to be deployed to a combat zone, and two were found ineligible, leaving 853 possible participants. Of these men, 22 were in the process of being contacted when the study closed. Thus, of the 831 men contacted, 754 agreed to participate, resulting in a participation rate of 91 percent. In the instances where the potential case was deceased, the study attempted to obtain proxy information from the man's mother. Thirteen proxy questionnaires were completed by the mothers of the 27 deceased men. Among the controls, 2,579 were evaluated for inclusion. Of these men, 385 men could not be traced, 18 had died, 64 were known to be deployed to a combat zone, and two were found to be ineligible. In addition, 928 could not be contacted within 30 days. Of the remaining 1,182 men, 32 were in the process of being contacted when the study closed. Thus, of the 1,150 men contacted, 928 agreed to participate, resulting in a participation rate of 81 percent. Among the 754 cases and 928 controls, there were 720 matched case-control pairs.
boolean
C0242356 (UMLS CUI [1,1])
C0600091 (UMLS CUI [1,2])
C0868928 (UMLS CUI [1,3])
C1550543 (UMLS CUI [1,4])
C0243161 (UMLS CUI [1,5])
C1698493 (UMLS CUI [1,6])
C1265611 (UMLS CUI [2,1])
C1698493 (UMLS CUI [2,2])
C1299582 (UMLS CUI [2,3])
C0243095 (UMLS CUI [2,4])
C1265611 (UMLS CUI [3,1])
C1698493 (UMLS CUI [3,2])
C1555024 (UMLS CUI [3,3])
C1265611 (UMLS CUI [4,1])
C1698493 (UMLS CUI [4,2])
C2135356 (UMLS CUI [4,3])
C1265611 (UMLS CUI [5,1])
C1698493 (UMLS CUI [5,2])
C5236167 (UMLS CUI [5,3])
C1698493 (UMLS CUI [6,1])
C0679823 (UMLS CUI [6,2])
C1521828 (UMLS CUI [6,3])
C3245505 (UMLS CUI [7,1])
C1698493 (UMLS CUI [7,2])
C1555024 (UMLS CUI [7,3])
C1516084 (UMLS CUI [7,4])
C1301820 (UMLS CUI [7,5])
C0600420 (UMLS CUI [7,6])
C1533716 (UMLS CUI [7,7])
C0026591 (UMLS CUI [7,8])
C1265611 (UMLS CUI [8,1])
C0600420 (UMLS CUI [8,2])
C0034394 (UMLS CUI [8,3])
C1265611 (UMLS CUI [9,1])
C0600091 (UMLS CUI [9,2])
C1550543 (UMLS CUI [9,3])
C0243161 (UMLS CUI [9,4])
C2986479 (UMLS CUI [9,5])
C1265611 (UMLS CUI [10,1])
C2986479 (UMLS CUI [10,2])
C1299582 (UMLS CUI [10,3])
C0243095 (UMLS CUI [10,4])
C1265611 (UMLS CUI [11,1])
C2986479 (UMLS CUI [11,2])
C1555024 (UMLS CUI [11,3])
C1265611 (UMLS CUI [12,1])
C2986479 (UMLS CUI [12,2])
C2135356 (UMLS CUI [12,3])
C1265611 (UMLS CUI [13,1])
C2986479 (UMLS CUI [13,2])
C5236167 (UMLS CUI [13,3])
C0679823 (UMLS CUI [13,4])
C2986479 (UMLS CUI [14,1])
C0679823 (UMLS CUI [14,2])
C1521828 (UMLS CUI [14,3])
C1265611 (UMLS CUI [15,1])
C0024907 (UMLS CUI [15,2])
C1709450 (UMLS CUI [15,3])
Elig.phs001303.v1.p1.3
Item
*Multiple-Case Family Study:* Familial testicular cancer kindred were identified through mailings to the members of health care provider societies who were likely to encounter TGCT patients in the course of their practice, a study-specific website, and various TGCT patient support/family advocacy groups. Criteria for enrollment into the study include at least one of the following: 1) ≥two men in the family had testicular cancer, 2) one family member has bilateral testicular cancer (that is, independent cancers involving both testicles), or 3) one family member with testicular cancer is a member of a set of genetically identical brothers, such as twins or triplets. We have recruited 733 members from 151 multiple-case families, and collected 649 DNA samples for our genetic analyses. Willing families were brought to the NIH Clinical Center for a 2-day, in-person evaluation by our multidisciplinary team. We collected demographic, family history, cancer risk factor and behavioral/psychosocial data, performed TGCT-related imaging studies and collected a variety of biological specimens. Family members who were unable or unwilling to travel to NIH completed study questionnaires and contributed biological specimens in their home communities. We attempted to objectively verify every cancer reported among bloodline family members.
boolean
C0439064 (UMLS CUI [1,1])
C1698493 (UMLS CUI [1,2])
C0199236 (UMLS CUI [1,3])
C0600091 (UMLS CUI [2,1])
C0851352 (UMLS CUI [2,2])
C0855197 (UMLS CUI [2,3])
C0024492 (UMLS CUI [2,4])
C0018724 (UMLS CUI [2,5])
C2349146 (UMLS CUI [2,6])
C0557818 (UMLS CUI [2,7])
C0680786 (UMLS CUI [2,8])
C1550543 (UMLS CUI [3,1])
C1516879 (UMLS CUI [3,2])
C0243161 (UMLS CUI [3,3])
C0205448 (UMLS CUI [3,4])
C0086582 (UMLS CUI [3,5])
C0855197 (UMLS CUI [3,6])
C1550543 (UMLS CUI [4,1])
C1516879 (UMLS CUI [4,2])
C0243161 (UMLS CUI [4,3])
C0205447 (UMLS CUI [4,4])
C0086282 (UMLS CUI [4,5])
C0238767 (UMLS CUI [4,6])
C0855197 (UMLS CUI [4,7])
C1550543 (UMLS CUI [5,1])
C1516879 (UMLS CUI [5,2])
C0243161 (UMLS CUI [5,3])
C0205447 (UMLS CUI [5,4])
C0086282 (UMLS CUI [5,5])
C0855197 (UMLS CUI [5,6])
C1292711 (UMLS CUI [5,7])
C0041427 (UMLS CUI [5,8])
C1265611 (UMLS CUI [6,1])
C0242800 (UMLS CUI [6,2])
C1516698 (UMLS CUI [6,3])
C0012854 (UMLS CUI [6,4])
C0600109 (UMLS CUI [7,1])
C0015576 (UMLS CUI [7,2])
C0008972 (UMLS CUI [7,3])
C1552416 (UMLS CUI [7,4])
C4316356 (UMLS CUI [7,5])
C0220825 (UMLS CUI [7,6])
C1144866 (UMLS CUI [7,7])
C0010995 (UMLS CUI [8,1])
C0011298 (UMLS CUI [8,2])
C0241889 (UMLS CUI [8,3])
C0279005 (UMLS CUI [8,4])
C0004936 (UMLS CUI [8,5])
C0004930 (UMLS CUI [8,6])
C0011923 (UMLS CUI [8,7])
C0200345 (UMLS CUI [8,8])
C0086282 (UMLS CUI [9,1])
C1299582 (UMLS CUI [9,2])
C0558080 (UMLS CUI [9,3])
C0040802 (UMLS CUI [9,4])
C0200345 (UMLS CUI [9,5])
C0034394 (UMLS CUI [9,6])
C4534363 (UMLS CUI [9,7])
C1571702 (UMLS CUI [10,1])
C1711411 (UMLS CUI [10,2])
C0006826 (UMLS CUI [10,3])
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