PubMed:9792861
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | Modifier | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-223 | Modifier | denotes | breast cancer |
| T4 | 228-249 | Modifier | denotes | breast/ovarian cancer |
| T5 | 355-361 | Modifier | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | Modifier | denotes | breast cancer |
| T9 | 1450-1463 | Modifier | denotes | breast cancer |
| T10 | 1468-1489 | Modifier | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-151 | SpecificDisease | denotes | breast cancer |
| T3 | 210-223 | SpecificDisease | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 355-361 | DiseaseClass | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T9 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T10 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-249 | CompositeMention | denotes | breast cancer and breast/ovarian cancer |
| T4 | 355-361 | Modifier | denotes | cancer |
| T5 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T6 | 965-978 | SpecificDisease | denotes | breast cancer |
| T7 | 1027-1040 | Modifier | denotes | breast cancer |
| T8 | 1450-1489 | CompositeMention | denotes | breast cancer and breast/ovarian cancer |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-223 | Modifier | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 355-361 | Modifier | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | Modifier | denotes | breast cancer |
| T9 | 1450-1463 | Modifier | denotes | breast cancer |
| T10 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 8-13 | gene:672 | denotes | BRCA1 |
| T1 | 64-78 | disease:C0029925 | denotes | ovarian cancer |
| T2 | 8-13 | gene:672 | denotes | BRCA1 |
| T3 | 64-78 | disease:C1140680 | denotes | ovarian cancer |
| T4 | 18-23 | gene:675 | denotes | BRCA2 |
| T5 | 64-78 | disease:C0029925 | denotes | ovarian cancer |
| T6 | 18-23 | gene:675 | denotes | BRCA2 |
| T7 | 64-78 | disease:C1140680 | denotes | ovarian cancer |
| R1 | T0 | T1 | associated_with | BRCA1,ovarian cancer |
| R2 | T2 | T3 | associated_with | BRCA1,ovarian cancer |
| R3 | T4 | T5 | associated_with | BRCA2,ovarian cancer |
| R4 | T6 | T7 | associated_with | BRCA2,ovarian cancer |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | Modifier:D061325 | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier:D001943 | denotes | breast cancer |
| T3 | 210-223 | Modifier:D001943 | denotes | breast cancer |
| T4 | 228-249 | Modifier:D061325 | denotes | breast/ovarian cancer |
| T5 | 355-361 | Modifier:D009369 | denotes | cancer |
| T6 | 806-820 | SpecificDisease:D010051 | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease:D001943 | denotes | breast cancer |
| T8 | 1027-1040 | Modifier:D001943 | denotes | breast cancer |
| T9 | 1450-1463 | Modifier:D001943 | denotes | breast cancer |
| T10 | 1468-1489 | Modifier:D061325 | denotes | breast/ovarian cancer |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T154 | 53-78 | Modifier | denotes | breast and ovarian cancer | D061325 |
| T155 | 138-151 | Modifier | denotes | breast cancer | D001943 |
| T156 | 210-223 | Modifier | denotes | breast cancer | D001943 |
| T157 | 228-249 | Modifier | denotes | breast/ovarian cancer | D061325 |
| T158 | 355-361 | Modifier | denotes | cancer | D009369 |
| T159 | 806-820 | SpecificDisease | denotes | ovarian cancer | D010051 |
| T160 | 965-978 | SpecificDisease | denotes | breast cancer | D001943 |
| T161 | 1027-1040 | Modifier | denotes | breast cancer | D001943 |
| T162 | 1450-1463 | Modifier | denotes | breast cancer | D001943 |
| T163 | 1468-1489 | Modifier | denotes | breast/ovarian cancer | D061325 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 8-13 | SpecificDisease | denotes | BRCA1 |
| T2 | 18-23 | SpecificDisease | denotes | BRCA2 |
| T3 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T4 | 138-151 | SpecificDisease | denotes | breast cancer |
| T5 | 174-179 | SpecificDisease | denotes | BRCA1 |
| T6 | 184-189 | SpecificDisease | denotes | BRCA2 |
| T7 | 210-223 | SpecificDisease | denotes | breast cancer |
| T8 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T9 | 355-361 | DiseaseClass | denotes | cancer |
| T10 | 518-539 | SpecificDisease | denotes | BRCA1 C4446T mutation |
| T11 | 592-616 | SpecificDisease | denotes | BRCA2 8765delAG mutation |
| T12 | 748-763 | SpecificDisease | denotes | BRCA1 mutations |
| T13 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T14 | 895-910 | SpecificDisease | denotes | BRCA2 mutations |
| T15 | 965-978 | SpecificDisease | denotes | breast cancer |
| T16 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T17 | 1371-1376 | SpecificDisease | denotes | BRCA1 |
| T18 | 1381-1386 | SpecificDisease | denotes | BRCA2 |
| T19 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T20 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-166 | DiseaseClass | denotes | breast cancer-susceptibility |
| T3 | 210-223 | SpecificDisease | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 355-361 | DiseaseClass | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T9 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T10 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 210-223 | Modifier | denotes | breast cancer |
| T3 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T4 | 806-820 | Modifier | denotes | ovarian cancer |
| T5 | 965-978 | Modifier | denotes | breast cancer |
| T6 | 1027-1040 | Modifier | denotes | breast cancer |
| T7 | 1450-1463 | Modifier | denotes | breast cancer |
| T8 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 64-78 | Modifier | denotes | ovarian cancer |
| T2 | 210-223 | Modifier | denotes | breast cancer |
| T3 | 228-249 | Modifier | denotes | breast/ovarian cancer |
| T4 | 806-820 | Modifier | denotes | ovarian cancer |
| T5 | 965-978 | Modifier | denotes | breast cancer |
| T6 | 1027-1040 | Modifier | denotes | breast cancer |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-223 | SpecificDisease | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T6 | 965-978 | SpecificDisease | denotes | breast cancer |
| T7 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T8 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T9 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | Modifier | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-223 | Modifier | denotes | breast cancer |
| T4 | 228-249 | Modifier | denotes | breast/ovarian cancer |
| T5 | 355-361 | Modifier | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T9 | 1450-1463 | Modifier | denotes | breast cancer |
| T10 | 1468-1489 | Modifier | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 8-33 | CompositeMention | denotes | BRCA1 and BRCA2 mutations |
| T2 | 53-87 | CompositeMention | denotes | breast and ovarian cancer families |
| T3 | 138-172 | DiseaseClass | denotes | breast cancer-susceptibility genes |
| T4 | 174-179 | SpecificDisease | denotes | BRCA1 |
| T5 | 184-189 | SpecificDisease | denotes | BRCA2 |
| T6 | 210-223 | SpecificDisease | denotes | breast cancer |
| T7 | 228-258 | CompositeMention | denotes | breast/ovarian cancer families |
| T8 | 355-370 | DiseaseClass | denotes | cancer families |
| T9 | 518-539 | SpecificDisease | denotes | BRCA1 C4446T mutation |
| T10 | 592-616 | SpecificDisease | denotes | BRCA2 8765delAG mutation |
| T11 | 748-763 | SpecificDisease | denotes | BRCA1 mutations |
| T12 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T13 | 895-910 | SpecificDisease | denotes | BRCA2 mutations |
| T14 | 965-978 | SpecificDisease | denotes | breast cancer |
| T15 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T16 | 1371-1396 | CompositeMention | denotes | BRCA1 and BRCA2 mutations |
| T17 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T18 | 1468-1498 | CompositeMention | denotes | breast/ovarian cancer families |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-1463 | Modifier | denotes | breast and ovarian cancer families. We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec. To identify founder effects, we examined independently ascertained French Canadian cancer families for the distribution of these eight mutations. Mutations were found in 41 of 97 families. Six of eight mutations were observed at least twice. The BRCA1 C4446T mutation was the most common mutation found, followed by the BRCA2 8765delAG mutation. Together, these mutations were found in 28 of 41 families identified to have a mutation. The odds of detection of any of the four BRCA1 mutations was 18.7x greater if one or more cases of ovarian cancer were also present in the family. The odds of detection of any of the four BRCA2 mutations was 5.3x greater if there were at least five cases of breast cancer in the family. Interestingly, the presence of a breast cancer case <36 years of age was strongly predictive of the presence of any of the eight mutations screened. Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population. The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer |
| T2 | 1475-1489 | Modifier | denotes | ovarian cancer |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-1463 | SpecificDisease | denotes | breast and ovarian cancer families. We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec. To identify founder effects, we examined independently ascertained French Canadian cancer families for the distribution of these eight mutations. Mutations were found in 41 of 97 families. Six of eight mutations were observed at least twice. The BRCA1 C4446T mutation was the most common mutation found, followed by the BRCA2 8765delAG mutation. Together, these mutations were found in 28 of 41 families identified to have a mutation. The odds of detection of any of the four BRCA1 mutations was 18.7x greater if one or more cases of ovarian cancer were also present in the family. The odds of detection of any of the four BRCA2 mutations was 5.3x greater if there were at least five cases of breast cancer in the family. Interestingly, the presence of a breast cancer case <36 years of age was strongly predictive of the presence of any of the eight mutations screened. Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population. The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer |
| T2 | 1475-1489 | SpecificDisease | denotes | ovarian cancer |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T154 | 53-78 | Modifier | denotes | breast and ovarian cancer | D061325 |
| T155 | 138-151 | Modifier | denotes | breast cancer | D001943 |
| T156 | 210-223 | Modifier | denotes | breast cancer | D001943 |
| T157 | 228-249 | Modifier | denotes | breast/ovarian cancer | D061325 |
| T158 | 355-361 | Modifier | denotes | cancer | D009369 |
| T159 | 806-820 | SpecificDisease | denotes | ovarian cancer | D010051 |
| T160 | 965-978 | SpecificDisease | denotes | breast cancer | D001943 |
| T161 | 1027-1040 | Modifier | denotes | breast cancer | D001943 |
| T162 | 1450-1463 | Modifier | denotes | breast cancer | D001943 |
| T163 | 1468-1489 | Modifier | denotes | breast/ovarian cancer | D061325 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | Modifier | denotes | breast and ovarian cancer |
| T2 | 138-151 | Modifier | denotes | breast cancer |
| T3 | 210-223 | Modifier | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 355-361 | Modifier | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T9 | 1450-1463 | Modifier | denotes | breast cancer |
| T10 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-1463 | Modifier | denotes | breast and ovarian cancer families. We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec. To identify founder effects, we examined independently ascertained French Canadian cancer families for the distribution of these eight mutations. Mutations were found in 41 of 97 families. Six of eight mutations were observed at least twice. The BRCA1 C4446T mutation was the most common mutation found, followed by the BRCA2 8765delAG mutation. Together, these mutations were found in 28 of 41 families identified to have a mutation. The odds of detection of any of the four BRCA1 mutations was 18.7x greater if one or more cases of ovarian cancer were also present in the family. The odds of detection of any of the four BRCA2 mutations was 5.3x greater if there were at least five cases of breast cancer in the family. Interestingly, the presence of a breast cancer case <36 years of age was strongly predictive of the presence of any of the eight mutations screened. Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population. The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer |
| T2 | 1475-1489 | Modifier | denotes | ovarian cancer |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 8-33 | DiseaseClass | denotes | BRCA1 and BRCA2 mutations |
| T2 | 37-78 | Modifier | denotes | French Canadian breast and ovarian cancer |
| T3 | 138-151 | Modifier | denotes | breast cancer |
| T4 | 194-223 | Modifier | denotes | French Canadian breast cancer |
| T5 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T6 | 339-361 | Modifier | denotes | French Canadian cancer |
| T7 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T8 | 965-978 | SpecificDisease | denotes | breast cancer |
| T9 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T10 | 1434-1463 | Modifier | denotes | French Canadian breast cancer |
| T11 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-78 | CompositeMention | denotes | breast and ovarian cancer |
| T2 | 138-151 | SpecificDisease | denotes | breast cancer |
| T3 | 210-223 | SpecificDisease | denotes | breast cancer |
| T4 | 228-249 | CompositeMention | denotes | breast/ovarian cancer |
| T5 | 355-361 | SpecificDisease | denotes | cancer |
| T6 | 806-820 | SpecificDisease | denotes | ovarian cancer |
| T7 | 965-978 | SpecificDisease | denotes | breast cancer |
| T8 | 1027-1040 | SpecificDisease | denotes | breast cancer |
| T9 | 1450-1463 | SpecificDisease | denotes | breast cancer |
| T10 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-223 | Modifier | denotes | breast and ovarian cancer families. We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer |
| T2 | 235-249 | Modifier | denotes | ovarian cancer |
| T4 | 1450-1463 | Modifier | denotes | breast cancer |
| T5 | 1468-1489 | Modifier | denotes | breast/ovarian cancer |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-223 | DiseaseClass | denotes | breast and ovarian cancer families. We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer |
| T2 | 235-249 | DiseaseClass | denotes | ovarian cancer |
| T4 | 1450-1463 | DiseaseClass | denotes | breast cancer |
| T5 | 1468-1489 | CompositeMention | denotes | breast/ovarian cancer |