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;
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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;
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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;
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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;
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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;
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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;
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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;
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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.
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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.
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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.
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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).
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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
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*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).
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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])