ID

45324

Beschrijving

Principal Investigator: Dana Crawford, PhD, Vanderbilt University, Nashville, TN, USA MeSH: Neoplasms,Breast Neoplasms,Colorectal Neoplasms,Endometrial Neoplasms,Lung Neoplasms,Lymphoma, Non-Hodgkin,Ovarian Neoplasms,Melanoma,Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000559 As part of Population Architecture using Genomics and Epidemiology PAGE study (Phase I), the Epidemiologic Architecture using Genomics and Epidemiology (EAGLE I) project accessed both epidemiologic- and clinic-based collections. The epidemiologic-based collection of EAGLE I included the National Health and Nutritional Examination Surveys (NHANES), ascertained between 1991-1994 (NHANES III), 1999-2002, and 2007-2008. NHANES is a population-based cross-sectional survey now conducted every year in the United States to assess the health status of Americans at the time of ascertainment and to assess trends over the years of survey. Genetic NHANES consists of 19,613 DNA samples linked to thousands of variables including demographics, health and lifestyle variables, physical examination variables, laboratory variables, and exposures. NHANES is diverse with almost one-half of the samples (46.4%) coming from self-reported Mexican Americans and non-Hispanic blacks. In contrast to NHANES, BioVU is a clinic-based collection of 150,000 DNA samples from Vanderbilt University Medical Center linked to de-identified electronic medical records (EMRs). Approximately 12% of BioVU's overall DNA sample collection is from African American, Hispanic, and Asian patients. The overall goals of PAGE I and EAGLE I were broad and several-fold:- Replicate genome-wide association study (GWAS)- identified variants in European Americans; - Identify population-specific and trans-population genotype-phenotype associations; - Identify genetic and environmental modifiers of these associations. NHANES is an excellent resource for the study of quantitative traits associated with common human diseases. However, given that the age range of NHANES spans childhood to late adulthood and not all diseases are surveyed, NHANES is less useful for the study of adult-onset diseases such as major cancers. Therefore, under American Recovery and Reinvestment Act (ARRA) funding, EAGLE as part of PAGE I defined eight major cancers sites for genetic analysis in BioVU, Vanderbilt's biorepository linked to de-identified EMRs. The eight major cancers defined for this study included melanoma, breast, ovarian, prostate, colorectal, lung, endometrial, and Non-Hodgkin's lymphoma (NHL). Cancer cases were defined using a combination of ICD-9 codes and tumor registry entries. Controls include BioVU participants without cancer and encompassing the age and gender distributions of cancer cases. Targeted genotyping of GWAS-identified variants for these diseases (124 SNPs) and ancestry informative markers (128 AIMs) was performed by the Center for Human Genetics Research Vanderbilt DNA Resources Core. After quality control, a total of 116 cancer-associated SNPs and 122 AIMs were available for downstream analyses.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000559

Trefwoorden

  1. 27-10-22 27-10-22 - Simon Heim
  2. 12-12-22 12-12-22 - Kristina Keller
Houder van rechten

Dana Crawford, PhD, Vanderbilt University, Nashville, TN, USA

Geüploaded op

27 oktober 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000559 PAGE: Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project

Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    3. Subject ID, sample ID and sample use variable obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    4. Subject ID, age, sex, race, ethnicity, smoking status, smoking ICD9 code, CEU population, follow-up time of cancer participant visit, cancer status, cancer diagnosis, cancer site, CEU population, total population, smoking status, year of diagnosis, cancer type, cancer stage, breast cancer, colorectal cancer, lung cancer, melanoma, non-Hodgkin's lymphoma, ovarian cancer, prostate cancer, endometrial cancer, multiply cancer and follow-up time of cancer participant's visit of subjects with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    5. Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
Inclusion and exclusion criteria
Beschrijving

Inclusion and exclusion criteria

Cancer cases and controls were identified using a combination of in-patient and out-patient data as well as tumor registry entries. These data include primary site designations and histology information collected for clinical reporting purposes for the North America Association of Central Cancer Registries. A combination of the tumor registry data, along with ICD-9 billing codes, procedure codes, vital signs, and free text clinical notes, were used to identify cases for eight cancers among all patients aged 18 or greater in the SD with DNA samples using the following algorithms:
Beschrijving

Cancer cases and controls were identified using a combination of in-patient and out-patient data as well as tumor registry entries. These data include primary site designations and histology information collected for clinical reporting purposes for the North America Association of Central Cancer Registries. A combination of the tumor registry data, along with ICD-9 billing codes, procedure codes, vital signs, and free text clinical notes, were used to identify cases for eight cancers among all patients aged 18 or greater in the SD with DNA samples using the following algorithms:

Datatype

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0205396
UMLS CUI [1,4]
C2707520
UMLS CUI [1,5]
C0805443
UMLS CUI [1,6]
C0449695
UMLS CUI [1,7]
C4048239
UMLS CUI [1,8]
C2826024
UMLS CUI [1,9]
C1136256
UMLS CUI [1,10]
C0518766
UMLS CUI [1,11]
C2066349
UMLS CUI [1,12]
C0001779
Breast cancer: Three or more mentions of ICD-9 primary code for malignant neoplasm of the female breast and all sub-codes on separate clinic visits OR a tumor registry entry for breast cancer AND female;
Beschrijving

Breast cancer: Three or more mentions of ICD-9 primary code for malignant neoplasm of the female breast and all sub-codes on separate clinic visits OR a tumor registry entry for breast cancer AND female;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0006142
UMLS CUI [1,2]
C1304708
UMLS CUI [1,3]
C1137111
UMLS CUI [1,4]
C0008952
UMLS CUI [1,5]
C0086287
Colorectal cancer: Tumor registry entry for colorectal cancer;
Beschrijving

Colorectal cancer: Tumor registry entry for colorectal cancer;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0009402
UMLS CUI [1,2]
C0805443
Endometrial cancer: Tumor registry entry for endometrial cancer AND histology AND female;
Beschrijving

Endometrial cancer: Tumor registry entry for endometrial cancer AND histology AND female;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0476089
UMLS CUI [1,3]
C0019638
UMLS CUI [1,4]
C0086287
Lung cancer: Tumor registry entry for lung cancer, any location and any type;
Beschrijving

Lung cancer: Tumor registry entry for lung cancer, any location and any type;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0684249
UMLS CUI [1,3]
C0450429
UMLS CUI [1,4]
C0030193
UMLS CUI [1,5]
C1552551
UMLS CUI [1,6]
C0332307
Melanoma: Three or more mentions of ICD-9 codes for malignant melanoma of skin OR tumor registry entry for melanoma;
Beschrijving

Melanoma: Three or more mentions of ICD-9 codes for malignant melanoma of skin OR tumor registry entry for melanoma;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0025202
UMLS CUI [1,3]
C1137111
Non-Hodgkin's lymphoma: Tumor registry entry for non-Hodgkin's lymphoma with histology;
Beschrijving

Non-Hodgkin's lymphoma: Tumor registry entry for non-Hodgkin's lymphoma with histology;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0024305
UMLS CUI [1,3]
C0019638
Ovarian cancer: Tumor registry entry for ovarian cancer AND female;
Beschrijving

Ovarian cancer: Tumor registry entry for ovarian cancer AND female;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0029925
UMLS CUI [1,3]
C0086287
Prostate cancer: Three or more mentions of ICD-9 codes for malignant neoplasm of prostate OR tumor registry entry for prostate cancer.
Beschrijving

Prostate cancer: Three or more mentions of ICD-9 codes for malignant neoplasm of prostate OR tumor registry entry for prostate cancer.

Datatype

boolean

Alias
UMLS CUI [1,1]
C0805443
UMLS CUI [1,2]
C0600139
UMLS CUI [1,3]
C1137111
Approximately two control samples were identified per case. Controls were matched by sex, race/ethnicity (administratively assigned), and age (within five years of the cases). Controls were required to have at least two clinical narratives, with preference given to records with at least one fully documented history and physical. Exclusion criteria included records with one or more codes for neoplasms, records with a tumor registry entry, and records that had one or more cancer related keywords in the problem list.
Beschrijving

Approximately two control samples were identified per case. Controls were matched by sex, race/ethnicity (administratively assigned), and age (within five years of the cases). Controls were required to have at least two clinical narratives, with preference given to records with at least one fully documented history and physical. Exclusion criteria included records with one or more codes for neoplasms, records with a tumor registry entry, and records that had one or more cancer related keywords in the problem list.

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0009932
UMLS CUI [1,4]
C0150103
UMLS CUI [1,5]
C0015031
UMLS CUI [1,6]
C1522384
UMLS CUI [1,7]
C0001779
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C4553389
UMLS CUI [2,3]
C0205210
UMLS CUI [2,4]
C0600664
UMLS CUI [2,5]
C0443225
UMLS CUI [2,6]
C0262926
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0034869
UMLS CUI [3,3]
C0346429
UMLS CUI [3,4]
C0805443
UMLS CUI [3,5]
C1708608
UMLS CUI [3,6]
C0332281
UMLS CUI [3,7]
C0006826
Additional control criteria are as follows:
Beschrijving

Additional control criteria are as follows:

Datatype

boolean

Alias
UMLS CUI [1,1]
C0243148
UMLS CUI [1,2]
C0243161
Breast cancer controls are female only. For women over 40 years of age, we required that records contain at least one mammography Bi-Rad score as 1 (negative) or 2 (benign);
Beschrijving

Breast cancer controls are female only. For women over 40 years of age, we required that records contain at least one mammography Bi-Rad score as 1 (negative) or 2 (benign);

Datatype

boolean

Alias
UMLS CUI [1,1]
C0006142
UMLS CUI [1,2]
C0086287
UMLS CUI [1,3]
C0001779
UMLS CUI [1,4]
C1514873
UMLS CUI [1,5]
C0025102
UMLS CUI [1,6]
C0024671
UMLS CUI [1,7]
C4480026
Endometrial cancer controls are female only;
Beschrijving

Endometrial cancer controls are female only;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0476089
UMLS CUI [1,2]
C0086287
Ovarian cancer controls are female only;
Beschrijving

Ovarian cancer controls are female only;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0029925
UMLS CUI [1,2]
C0086287
For colorectal cancer controls, we required for patients over 50 years of age the keyword "colonoscopy" in the problem list OR a procedure code for colonoscopy;
Beschrijving

For colorectal cancer controls, we required for patients over 50 years of age the keyword "colonoscopy" in the problem list OR a procedure code for colonoscopy;

Datatype

boolean

Alias
UMLS CUI [1,1]
C0009402
UMLS CUI [1,2]
C4553389
UMLS CUI [1,3]
C0001779
UMLS CUI [1,4]
C1514873
UMLS CUI [1,5]
C1708608
UMLS CUI [1,6]
C0009378
UMLS CUI [1,7]
C0552582
UMLS CUI [1,8]
C1550373
Prostate cancer controls are male only. For male controls aged 40 years and greater to have at least one prostate specific antigen (PSA) level <4 and that the most recent PSA level is within the normal range.
Beschrijving

Prostate cancer controls are male only. For male controls aged 40 years and greater to have at least one prostate specific antigen (PSA) level <4 and that the most recent PSA level is within the normal range.

Datatype

boolean

Alias
UMLS CUI [1,1]
C0600139
UMLS CUI [1,2]
C0086582
UMLS CUI [1,3]
C0001779
UMLS CUI [1,4]
C0201544
UMLS CUI [1,5]
C1513491
UMLS CUI [1,6]
C0086715
A total of 7,348 cases of cancer were identified in BioVU for targeted genotyping in EAGLE (Table).
Beschrijving

A total of 7,348 cases of cancer were identified in BioVU for targeted genotyping in EAGLE (Table).

Datatype

boolean

Alias
UMLS CUI [1,1]
C1853237
UMLS CUI [1,2]
C3854164
UMLS CUI [1,3]
C0205396
*Table. Case counts by cancer and race/ethnicity.* Cases of specific cancers were determined in the de-identified electronic medical records within BioVU using algorithms implemented in late 2010/early 2011 as described in the text. Race/ethnicity was administratively assigned. *Cancer* *EA* *AA* *H* *A* *AI/NA* *O* *U* *Total* Breast 1,052 163 7 17 2 10 66 1,317 Colorectal 797 75 6 5 1 5 23 912 Endometrial 203 19 1 1 0 1 8 233 Lung 782 66 2 3 1 4 43 901 Melanoma 1,225 23 2 0 0 3 95 1,348 Non-Hodgkin's lymphoma 276 17 1 0 0 2 46 342 Ovarian 161 7 3 2 0 0 10 183 Prostate 1,895 172 4 2 0 7 32 2,112 Total 6,391 542 26 30 4 32 323 7,348
Beschrijving

*Table. Case counts by cancer and race/ethnicity.* Cases of specific cancers were determined in the de-identified electronic medical records within BioVU using algorithms implemented in late 2010/early 2011 as described in the text. Race/ethnicity was administratively assigned. *Cancer* *EA* *AA* *H* *A* *AI/NA* *O* *U* *Total* Breast 1,052 163 7 17 2 10 66 1,317 Colorectal 797 75 6 5 1 5 23 912 Endometrial 203 19 1 1 0 1 8 233 Lung 782 66 2 3 1 4 43 901 Melanoma 1,225 23 2 0 0 3 95 1,348 Non-Hodgkin's lymphoma 276 17 1 0 0 2 46 342 Ovarian 161 7 3 2 0 0 10 183 Prostate 1,895 172 4 2 0 7 32 2,112 Total 6,391 542 26 30 4 32 323 7,348

Datatype

boolean

Alias
UMLS CUI [1,1]
C1706074
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0750480
UMLS CUI [1,4]
C0034510
Abbreviations: European American (EA), African American (AA), Hispanic (H), Asian (A), American Indian/Native Alaskan (AI/NA), Other (O), Unknown (U).
Beschrijving

Abbreviations: European American (EA), African American (AA), Hispanic (H), Asian (A), American Indian/Native Alaskan (AI/NA), Other (O), Unknown (U).

Datatype

boolean

Alias
UMLS CUI [1,1]
C0000723
UMLS CUI [1,2]
C0085756
UMLS CUI [1,3]
C0683983
UMLS CUI [1,4]
C0086528
UMLS CUI [1,5]
C1515945
UMLS CUI [1,6]
C0078988
UMLS CUI [1,7]
C0205394
UMLS CUI [1,8]
C0439673
For the first five cancers defined in BioVU (breast, colorectal, melanoma, ovarian, and prostate cancers), we identified approximately two controls per case for genotyping as defined in the inclusion/exclusion criteria. A total of 8,996 controls were targeted for genotyping. Two controls per case of endometrial cancer, lung cancer, and non-Hodgkin's lymphoma were defined from among the genotyped control samples.
Beschrijving

For the first five cancers defined in BioVU (breast, colorectal, melanoma, ovarian, and prostate cancers), we identified approximately two controls per case for genotyping as defined in the inclusion/exclusion criteria. A total of 8,996 controls were targeted for genotyping. Two controls per case of endometrial cancer, lung cancer, and non-Hodgkin's lymphoma were defined from among the genotyped control samples.

Datatype

boolean

Alias
UMLS CUI [1,1]
C0006826
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0009932
UMLS CUI [1,4]
C0150103
UMLS CUI [1,5]
C0796344
UMLS CUI [1,6]
C0006142
UMLS CUI [1,7]
C0009402
UMLS CUI [1,8]
C0025202
UMLS CUI [1,9]
C1140680
UMLS CUI [1,10]
C0376358
UMLS CUI [2,1]
C0796344
UMLS CUI [2,2]
C0009932
UMLS CUI [2,3]
C2347026
UMLS CUI [2,4]
C0476089
UMLS CUI [2,5]
C0024305
UMLS CUI [2,6]
C0242379

Similar models

Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    3. Subject ID, sample ID and sample use variable obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    4. Subject ID, age, sex, race, ethnicity, smoking status, smoking ICD9 code, CEU population, follow-up time of cancer participant visit, cancer status, cancer diagnosis, cancer site, CEU population, total population, smoking status, year of diagnosis, cancer type, cancer stage, breast cancer, colorectal cancer, lung cancer, melanoma, non-Hodgkin's lymphoma, ovarian cancer, prostate cancer, endometrial cancer, multiply cancer and follow-up time of cancer participant's visit of subjects with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    5. Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
Cancer cases and controls were identified using a combination of in-patient and out-patient data as well as tumor registry entries. These data include primary site designations and histology information collected for clinical reporting purposes for the North America Association of Central Cancer Registries. A combination of the tumor registry data, along with ICD-9 billing codes, procedure codes, vital signs, and free text clinical notes, were used to identify cases for eight cancers among all patients aged 18 or greater in the SD with DNA samples using the following algorithms:
Item
Cancer cases and controls were identified using a combination of in-patient and out-patient data as well as tumor registry entries. These data include primary site designations and histology information collected for clinical reporting purposes for the North America Association of Central Cancer Registries. A combination of the tumor registry data, along with ICD-9 billing codes, procedure codes, vital signs, and free text clinical notes, were used to identify cases for eight cancers among all patients aged 18 or greater in the SD with DNA samples using the following algorithms:
boolean
C1706256 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0205396 (UMLS CUI [1,3])
C2707520 (UMLS CUI [1,4])
C0805443 (UMLS CUI [1,5])
C0449695 (UMLS CUI [1,6])
C4048239 (UMLS CUI [1,7])
C2826024 (UMLS CUI [1,8])
C1136256 (UMLS CUI [1,9])
C0518766 (UMLS CUI [1,10])
C2066349 (UMLS CUI [1,11])
C0001779 (UMLS CUI [1,12])
Breast cancer: Three or more mentions of ICD-9 primary code for malignant neoplasm of the female breast and all sub-codes on separate clinic visits OR a tumor registry entry for breast cancer AND female;
Item
Breast cancer: Three or more mentions of ICD-9 primary code for malignant neoplasm of the female breast and all sub-codes on separate clinic visits OR a tumor registry entry for breast cancer AND female;
boolean
C0006142 (UMLS CUI [1,1])
C1304708 (UMLS CUI [1,2])
C1137111 (UMLS CUI [1,3])
C0008952 (UMLS CUI [1,4])
C0086287 (UMLS CUI [1,5])
Colorectal cancer: Tumor registry entry for colorectal cancer;
Item
Colorectal cancer: Tumor registry entry for colorectal cancer;
boolean
C0009402 (UMLS CUI [1,1])
C0805443 (UMLS CUI [1,2])
Endometrial cancer: Tumor registry entry for endometrial cancer AND histology AND female;
Item
Endometrial cancer: Tumor registry entry for endometrial cancer AND histology AND female;
boolean
C0805443 (UMLS CUI [1,1])
C0476089 (UMLS CUI [1,2])
C0019638 (UMLS CUI [1,3])
C0086287 (UMLS CUI [1,4])
Lung cancer: Tumor registry entry for lung cancer, any location and any type;
Item
Lung cancer: Tumor registry entry for lung cancer, any location and any type;
boolean
C0805443 (UMLS CUI [1,1])
C0684249 (UMLS CUI [1,2])
C0450429 (UMLS CUI [1,3])
C0030193 (UMLS CUI [1,4])
C1552551 (UMLS CUI [1,5])
C0332307 (UMLS CUI [1,6])
Melanoma: Three or more mentions of ICD-9 codes for malignant melanoma of skin OR tumor registry entry for melanoma;
Item
Melanoma: Three or more mentions of ICD-9 codes for malignant melanoma of skin OR tumor registry entry for melanoma;
boolean
C0805443 (UMLS CUI [1,1])
C0025202 (UMLS CUI [1,2])
C1137111 (UMLS CUI [1,3])
Non-Hodgkin's lymphoma: Tumor registry entry for non-Hodgkin's lymphoma with histology;
Item
Non-Hodgkin's lymphoma: Tumor registry entry for non-Hodgkin's lymphoma with histology;
boolean
C0805443 (UMLS CUI [1,1])
C0024305 (UMLS CUI [1,2])
C0019638 (UMLS CUI [1,3])
Ovarian cancer: Tumor registry entry for ovarian cancer AND female;
Item
Ovarian cancer: Tumor registry entry for ovarian cancer AND female;
boolean
C0805443 (UMLS CUI [1,1])
C0029925 (UMLS CUI [1,2])
C0086287 (UMLS CUI [1,3])
Prostate cancer: Three or more mentions of ICD-9 codes for malignant neoplasm of prostate OR tumor registry entry for prostate cancer.
Item
Prostate cancer: Three or more mentions of ICD-9 codes for malignant neoplasm of prostate OR tumor registry entry for prostate cancer.
boolean
C0805443 (UMLS CUI [1,1])
C0600139 (UMLS CUI [1,2])
C1137111 (UMLS CUI [1,3])
Approximately two control samples were identified per case. Controls were matched by sex, race/ethnicity (administratively assigned), and age (within five years of the cases). Controls were required to have at least two clinical narratives, with preference given to records with at least one fully documented history and physical. Exclusion criteria included records with one or more codes for neoplasms, records with a tumor registry entry, and records that had one or more cancer related keywords in the problem list.
Item
Approximately two control samples were identified per case. Controls were matched by sex, race/ethnicity (administratively assigned), and age (within five years of the cases). Controls were required to have at least two clinical narratives, with preference given to records with at least one fully documented history and physical. Exclusion criteria included records with one or more codes for neoplasms, records with a tumor registry entry, and records that had one or more cancer related keywords in the problem list.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
C0150103 (UMLS CUI [1,4])
C0015031 (UMLS CUI [1,5])
C1522384 (UMLS CUI [1,6])
C0001779 (UMLS CUI [1,7])
C1512693 (UMLS CUI [2,1])
C4553389 (UMLS CUI [2,2])
C0205210 (UMLS CUI [2,3])
C0600664 (UMLS CUI [2,4])
C0443225 (UMLS CUI [2,5])
C0262926 (UMLS CUI [2,6])
C0680251 (UMLS CUI [3,1])
C0034869 (UMLS CUI [3,2])
C0346429 (UMLS CUI [3,3])
C0805443 (UMLS CUI [3,4])
C1708608 (UMLS CUI [3,5])
C0332281 (UMLS CUI [3,6])
C0006826 (UMLS CUI [3,7])
Additional control criteria are as follows:
Item
Additional control criteria are as follows:
boolean
C0243148 (UMLS CUI [1,1])
C0243161 (UMLS CUI [1,2])
Breast cancer controls are female only. For women over 40 years of age, we required that records contain at least one mammography Bi-Rad score as 1 (negative) or 2 (benign);
Item
Breast cancer controls are female only. For women over 40 years of age, we required that records contain at least one mammography Bi-Rad score as 1 (negative) or 2 (benign);
boolean
C0006142 (UMLS CUI [1,1])
C0086287 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C1514873 (UMLS CUI [1,4])
C0025102 (UMLS CUI [1,5])
C0024671 (UMLS CUI [1,6])
C4480026 (UMLS CUI [1,7])
Endometrial cancer controls are female only;
Item
Endometrial cancer controls are female only;
boolean
C0476089 (UMLS CUI [1,1])
C0086287 (UMLS CUI [1,2])
Ovarian cancer controls are female only;
Item
Ovarian cancer controls are female only;
boolean
C0029925 (UMLS CUI [1,1])
C0086287 (UMLS CUI [1,2])
For colorectal cancer controls, we required for patients over 50 years of age the keyword "colonoscopy" in the problem list OR a procedure code for colonoscopy;
Item
For colorectal cancer controls, we required for patients over 50 years of age the keyword "colonoscopy" in the problem list OR a procedure code for colonoscopy;
boolean
C0009402 (UMLS CUI [1,1])
C4553389 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C1514873 (UMLS CUI [1,4])
C1708608 (UMLS CUI [1,5])
C0009378 (UMLS CUI [1,6])
C0552582 (UMLS CUI [1,7])
C1550373 (UMLS CUI [1,8])
Prostate cancer controls are male only. For male controls aged 40 years and greater to have at least one prostate specific antigen (PSA) level <4 and that the most recent PSA level is within the normal range.
Item
Prostate cancer controls are male only. For male controls aged 40 years and greater to have at least one prostate specific antigen (PSA) level <4 and that the most recent PSA level is within the normal range.
boolean
C0600139 (UMLS CUI [1,1])
C0086582 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0201544 (UMLS CUI [1,4])
C1513491 (UMLS CUI [1,5])
C0086715 (UMLS CUI [1,6])
A total of 7,348 cases of cancer were identified in BioVU for targeted genotyping in EAGLE (Table).
Item
A total of 7,348 cases of cancer were identified in BioVU for targeted genotyping in EAGLE (Table).
boolean
C1853237 (UMLS CUI [1,1])
C3854164 (UMLS CUI [1,2])
C0205396 (UMLS CUI [1,3])
*Table. Case counts by cancer and race/ethnicity.* Cases of specific cancers were determined in the de-identified electronic medical records within BioVU using algorithms implemented in late 2010/early 2011 as described in the text. Race/ethnicity was administratively assigned. *Cancer* *EA* *AA* *H* *A* *AI/NA* *O* *U* *Total* Breast 1,052 163 7 17 2 10 66 1,317 Colorectal 797 75 6 5 1 5 23 912 Endometrial 203 19 1 1 0 1 8 233 Lung 782 66 2 3 1 4 43 901 Melanoma 1,225 23 2 0 0 3 95 1,348 Non-Hodgkin's lymphoma 276 17 1 0 0 2 46 342 Ovarian 161 7 3 2 0 0 10 183 Prostate 1,895 172 4 2 0 7 32 2,112 Total 6,391 542 26 30 4 32 323 7,348
Item
*Table. Case counts by cancer and race/ethnicity.* Cases of specific cancers were determined in the de-identified electronic medical records within BioVU using algorithms implemented in late 2010/early 2011 as described in the text. Race/ethnicity was administratively assigned. *Cancer* *EA* *AA* *H* *A* *AI/NA* *O* *U* *Total* Breast 1,052 163 7 17 2 10 66 1,317 Colorectal 797 75 6 5 1 5 23 912 Endometrial 203 19 1 1 0 1 8 233 Lung 782 66 2 3 1 4 43 901 Melanoma 1,225 23 2 0 0 3 95 1,348 Non-Hodgkin's lymphoma 276 17 1 0 0 2 46 342 Ovarian 161 7 3 2 0 0 10 183 Prostate 1,895 172 4 2 0 7 32 2,112 Total 6,391 542 26 30 4 32 323 7,348
boolean
C1706074 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0750480 (UMLS CUI [1,3])
C0034510 (UMLS CUI [1,4])
Abbreviations: European American (EA), African American (AA), Hispanic (H), Asian (A), American Indian/Native Alaskan (AI/NA), Other (O), Unknown (U).
Item
Abbreviations: European American (EA), African American (AA), Hispanic (H), Asian (A), American Indian/Native Alaskan (AI/NA), Other (O), Unknown (U).
boolean
C0000723 (UMLS CUI [1,1])
C0085756 (UMLS CUI [1,2])
C0683983 (UMLS CUI [1,3])
C0086528 (UMLS CUI [1,4])
C1515945 (UMLS CUI [1,5])
C0078988 (UMLS CUI [1,6])
C0205394 (UMLS CUI [1,7])
C0439673 (UMLS CUI [1,8])
For the first five cancers defined in BioVU (breast, colorectal, melanoma, ovarian, and prostate cancers), we identified approximately two controls per case for genotyping as defined in the inclusion/exclusion criteria. A total of 8,996 controls were targeted for genotyping. Two controls per case of endometrial cancer, lung cancer, and non-Hodgkin's lymphoma were defined from among the genotyped control samples.
Item
For the first five cancers defined in BioVU (breast, colorectal, melanoma, ovarian, and prostate cancers), we identified approximately two controls per case for genotyping as defined in the inclusion/exclusion criteria. A total of 8,996 controls were targeted for genotyping. Two controls per case of endometrial cancer, lung cancer, and non-Hodgkin's lymphoma were defined from among the genotyped control samples.
boolean
C0006826 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
C0150103 (UMLS CUI [1,4])
C0796344 (UMLS CUI [1,5])
C0006142 (UMLS CUI [1,6])
C0009402 (UMLS CUI [1,7])
C0025202 (UMLS CUI [1,8])
C1140680 (UMLS CUI [1,9])
C0376358 (UMLS CUI [1,10])
C0796344 (UMLS CUI [2,1])
C0009932 (UMLS CUI [2,2])
C2347026 (UMLS CUI [2,3])
C0476089 (UMLS CUI [2,4])
C0024305 (UMLS CUI [2,5])
C0242379 (UMLS CUI [2,6])

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