PubMed:15668505
Annnotations
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-100 | Sentence | denotes | Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. |
T2 | 101-306 | Sentence | denotes | The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. |
T3 | 307-545 | Sentence | denotes | As these studies concerned sporadic cancer cases, we investigated whether N372H and another common variant located in the 5'-untranslated region (203G > A) of the BRCA2 gene modify breast or ovarian cancer risk in BRCA1 mutation carriers. |
T4 | 546-637 | Sentence | denotes | The study includes 778 women carrying a BRCA1 germ-line mutation belonging to 403 families. |
T5 | 638-722 | Sentence | denotes | The two BRCA2 variants were analyzed by the TaqMan allelic discrimination technique. |
T6 | 723-820 | Sentence | denotes | Genotypes were analyzed by disease-free survival analysis using a Cox proportional hazards model. |
T7 | 821-950 | Sentence | denotes | We found no evidence of a significant modification of breast cancer penetrance in BRCA1 mutation carriers by either polymorphism. |
T8 | 951-1155 | Sentence | denotes | In respect of ovarian cancer risk, we also saw no effect with the N372H variant but we did observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). |
T9 | 1156-1366 | Sentence | denotes | In contrast to the result of Healey et al. on newborn females and adult female controls, we found no departure from Hardy-Weinberg equilibrium in the distribution of N372H alleles for our female BRCA1 carriers. |
T10 | 1367-1590 | Sentence | denotes | We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population. |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
1408 | 7-12 | GeneOrGeneProduct | denotes | BRCA2 | NCBIGene:675 |
1409 | 42-67 | DiseaseOrPhenotypicFeature | denotes | breast and ovarian cancer | MESH:D010051|MESH:D001943 |
1410 | 76-81 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1411 | 177-182 | SequenceVariant | denotes | N372H | DBSNP:rs144848 |
1412 | 190-195 | GeneOrGeneProduct | denotes | BRCA2 | NCBIGene:675 |
1413 | 280-305 | DiseaseOrPhenotypicFeature | denotes | breast and ovarian cancer | MESH:D001943|MESH:D010051 |
1414 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | MESH:D009369 |
1415 | 381-386 | SequenceVariant | denotes | N372H | DBSNP:rs144848 |
1416 | 453-461 | SequenceVariant | denotes | 203G > A | g|SUB|G|203|A |
1417 | 470-475 | GeneOrGeneProduct | denotes | BRCA2 | NCBIGene:675 |
1418 | 488-512 | DiseaseOrPhenotypicFeature | denotes | breast or ovarian cancer | MESH:D001943|MESH:D010051 |
1419 | 521-526 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1420 | 569-574 | OrganismTaxon | denotes | women | NCBITaxon:9606 |
1421 | 586-591 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1422 | 646-651 | GeneOrGeneProduct | denotes | BRCA2 | NCBIGene:675 |
1423 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | MESH:D001943 |
1424 | 903-908 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1425 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | MESH:D010051 |
1426 | 1017-1022 | SequenceVariant | denotes | N372H | DBSNP:rs144848 |
1427 | 1107-1111 | SequenceVariant | denotes | 203A | g|Allele|A|203 |
1428 | 1322-1327 | SequenceVariant | denotes | N372H | DBSNP:rs144848 |
1429 | 1351-1356 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1430 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | MESH:D009369 |
1431 | 1457-1462 | GeneOrGeneProduct | denotes | BRCA1 | NCBIGene:672 |
1432 | 1538-1543 | SequenceVariant | denotes | N372H | DBSNP:rs144848 |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170 |
T2 | 61-67 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T3 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170 |
T4 | 299-305 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T5 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T6 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170 |
T7 | 506-512 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T8 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | 0007254 |
T9 | 882-888 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T10 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170 |
T11 | 973-979 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
T12 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | 0004992 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 177-182 | SequenceVariant | denotes | N372H |
T2 | 381-386 | SequenceVariant | denotes | N372H |
T3 | 453-457 | SequenceVariant | denotes | 203G |
T4 | 1017-1022 | SequenceVariant | denotes | N372H |
T5 | 1107-1111 | SequenceVariant | denotes | 203A |
T6 | 1322-1327 | SequenceVariant | denotes | N372H |
T7 | 1538-1543 | SequenceVariant | denotes | N372H |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 7-12 | GeneOrGeneProduct | denotes | BRCA2 |
T2 | 76-81 | GeneOrGeneProduct | denotes | BRCA1 |
T3 | 82-90 | GeneOrGeneProduct | denotes | mutation |
T4 | 91-99 | GeneOrGeneProduct | denotes | carriers |
T5 | 140-150 | GeneOrGeneProduct | denotes | amino acid |
T6 | 190-195 | GeneOrGeneProduct | denotes | BRCA2 |
T7 | 250-254 | GeneOrGeneProduct | denotes | fold |
T8 | 350-355 | GeneOrGeneProduct | denotes | cases |
T9 | 470-475 | GeneOrGeneProduct | denotes | BRCA2 |
T10 | 521-526 | GeneOrGeneProduct | denotes | BRCA1 |
T11 | 527-535 | GeneOrGeneProduct | denotes | mutation |
T12 | 536-544 | GeneOrGeneProduct | denotes | carriers |
T13 | 586-591 | GeneOrGeneProduct | denotes | BRCA1 |
T14 | 592-596 | GeneOrGeneProduct | denotes | germ |
T15 | 597-601 | GeneOrGeneProduct | denotes | line |
T16 | 602-610 | GeneOrGeneProduct | denotes | mutation |
T17 | 646-651 | GeneOrGeneProduct | denotes | BRCA2 |
T18 | 787-792 | GeneOrGeneProduct | denotes | a Cox |
T19 | 903-908 | GeneOrGeneProduct | denotes | BRCA1 |
T20 | 909-917 | GeneOrGeneProduct | denotes | mutation |
T21 | 918-926 | GeneOrGeneProduct | denotes | carriers |
T22 | 1159-1167 | GeneOrGeneProduct | denotes | contrast |
T23 | 1272-1277 | GeneOrGeneProduct | denotes | Hardy |
T24 | 1351-1356 | GeneOrGeneProduct | denotes | BRCA1 |
T25 | 1357-1365 | GeneOrGeneProduct | denotes | carriers |
T26 | 1457-1462 | GeneOrGeneProduct | denotes | BRCA1 |
T27 | 1463-1471 | GeneOrGeneProduct | denotes | mutation |
T28 | 1472-1480 | GeneOrGeneProduct | denotes | carriers |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 7-12 | GeneOrGeneProduct | denotes | BRCA2 |
T2 | 76-81 | GeneOrGeneProduct | denotes | BRCA1 |
T3 | 140-150 | GeneOrGeneProduct | denotes | amino acid |
T4 | 190-195 | GeneOrGeneProduct | denotes | BRCA2 |
T5 | 250-254 | GeneOrGeneProduct | denotes | fold |
T6 | 470-475 | GeneOrGeneProduct | denotes | BRCA2 |
T7 | 521-526 | GeneOrGeneProduct | denotes | BRCA1 |
T8 | 586-591 | GeneOrGeneProduct | denotes | BRCA1 |
T9 | 646-651 | GeneOrGeneProduct | denotes | BRCA2 |
T10 | 903-908 | GeneOrGeneProduct | denotes | BRCA1 |
T11 | 1351-1356 | GeneOrGeneProduct | denotes | BRCA1 |
T12 | 1457-1462 | GeneOrGeneProduct | denotes | BRCA1 |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T2 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T3 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
T4 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T5 | 750-757 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
T6 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | D001943 |
T7 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T8 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 7-12 | GeneOrGeneProduct | denotes | BRCA2 |
T2 | 190-195 | GeneOrGeneProduct | denotes | BRCA2 |
T3 | 470-475 | GeneOrGeneProduct | denotes | BRCA2 |
T4 | 646-651 | GeneOrGeneProduct | denotes | BRCA2 |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170|0005140 |
T3 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170|0005140 |
T5 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170|0005140 |
T7 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | 0007254|0004989 |
T9 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | 0008170|0005140 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T2 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T3 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
T4 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T5 | 750-757 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
T6 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | D001943 |
T7 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T8 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T2 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T3 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
T4 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T5 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | D001943 |
T6 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T7 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 569-574 | OrganismTaxon | denotes | women |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T4 | 646-651 | GeneOrGeneProduct | denotes | BRCA2 | |
T3 | 470-475 | GeneOrGeneProduct | denotes | BRCA2 | |
T2 | 190-195 | GeneOrGeneProduct | denotes | BRCA2 | |
T1 | 7-12 | GeneOrGeneProduct | denotes | BRCA2 | |
T7 | 1447-1453 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
T6 | 965-979 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T5 | 875-888 | DiseaseOrPhenotypicFeature | denotes | breast cancer | D001943 |
T4943 | 498-512 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T58027 | 343-349 | DiseaseOrPhenotypicFeature | denotes | cancer | D009369 |
T19450 | 291-305 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T16641 | 53-67 | DiseaseOrPhenotypicFeature | denotes | ovarian cancer | D010051 |
T72525 | 569-574 | OrganismTaxon | denotes | women | |
T72018 | 1538-1543 | SequenceVariant | denotes | N372H | |
T15227 | 1322-1327 | SequenceVariant | denotes | N372H | |
T23613 | 1107-1111 | SequenceVariant | denotes | 203A | |
T10040 | 1017-1022 | SequenceVariant | denotes | N372H | |
T92662 | 453-457 | SequenceVariant | denotes | 203G | |
T11899 | 381-386 | SequenceVariant | denotes | N372H | |
T79781 | 177-182 | SequenceVariant | denotes | N372H |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
15668505-7#66#71#geners144848 | 1017-1022 | geners144848 | denotes | N372H |
15668505-7#14#28#diseaseC0029925 | 965-979 | diseaseC0029925 | denotes | ovarian cancer |
15668505-7#14#28#diseaseC1140680 | 965-979 | diseaseC1140680 | denotes | ovarian cancer |
66#71#geners14484814#28#diseaseC0029925 | 15668505-7#66#71#geners144848 | 15668505-7#14#28#diseaseC0029925 | associated_with | N372H,ovarian cancer |
66#71#geners14484814#28#diseaseC1140680 | 15668505-7#66#71#geners144848 | 15668505-7#14#28#diseaseC1140680 | associated_with | N372H,ovarian cancer |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
15668505-0#7#12#gene675 | 646-651 | gene675 | denotes | BRCA2 |
15668505-0#76#81#gene672 | 1457-1462 | gene672 | denotes | BRCA1 |
15668505-0#53#67#diseaseC0029925 | 1042-1262 | diseaseC0029925 | denotes | observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar |
15668505-0#53#67#diseaseC1140680 | 1042-1262 | diseaseC1140680 | denotes | observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar |
15668505-0#53#67#diseaseC0029925 | 1042-1262 | diseaseC0029925 | denotes | observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar |
15668505-0#53#67#diseaseC1140680 | 1042-1262 | diseaseC1140680 | denotes | observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar |
15668505-6#82#87#gene672 | 903-908 | gene672 | denotes | BRCA1 |
15668505-6#54#67#diseaseC0006142 | 875-888 | diseaseC0006142 | denotes | breast cancer |
15668505-6#54#67#diseaseC0678222 | 875-888 | diseaseC0678222 | denotes | breast cancer |
7#12#gene67553#67#diseaseC0029925 | 15668505-0#7#12#gene675 | 15668505-0#53#67#diseaseC0029925 | associated_with | BRCA2,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
7#12#gene67553#67#diseaseC1140680 | 15668505-0#7#12#gene675 | 15668505-0#53#67#diseaseC1140680 | associated_with | BRCA2,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
7#12#gene67553#67#diseaseC0029925 | 15668505-0#7#12#gene675 | 15668505-0#53#67#diseaseC0029925 | associated_with | BRCA2,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
7#12#gene67553#67#diseaseC1140680 | 15668505-0#7#12#gene675 | 15668505-0#53#67#diseaseC1140680 | associated_with | BRCA2,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
76#81#gene67253#67#diseaseC0029925 | 15668505-0#76#81#gene672 | 15668505-0#53#67#diseaseC0029925 | associated_with | BRCA1,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
76#81#gene67253#67#diseaseC1140680 | 15668505-0#76#81#gene672 | 15668505-0#53#67#diseaseC1140680 | associated_with | BRCA1,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
76#81#gene67253#67#diseaseC0029925 | 15668505-0#76#81#gene672 | 15668505-0#53#67#diseaseC0029925 | associated_with | BRCA1,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
76#81#gene67253#67#diseaseC1140680 | 15668505-0#76#81#gene672 | 15668505-0#53#67#diseaseC1140680 | associated_with | BRCA1,"observe a borderline association with the 5'-untranslated region 203A allele (hazard ratio, 1.43; CI, 1.01-2.00). In contrast to the result of Healey et al. on newborn females and adult female controls, we found no depar" |
82#87#gene67254#67#diseaseC0006142 | 15668505-6#82#87#gene672 | 15668505-6#54#67#diseaseC0006142 | associated_with | BRCA1,breast cancer |
82#87#gene67254#67#diseaseC0678222 | 15668505-6#82#87#gene672 | 15668505-6#54#67#diseaseC0678222 | associated_with | BRCA1,breast cancer |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 177-182 | ProteinMutation:p|SUB|N|372|H | denotes | N372H |
T2 | 381-386 | ProteinMutation:p|SUB|N|372|H | denotes | N372H |
T3 | 453-461 | DNAMutation:g|SUB|G|203|A | denotes | 203G > A |
T4 | 1017-1022 | ProteinMutation:p|SUB|N|372|H | denotes | N372H |
T5 | 1322-1327 | ProteinMutation:p|SUB|N|372|H | denotes | N372H |
T6 | 1538-1543 | ProteinMutation:p|SUB|N|372|H | denotes | N372H |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 470-475 | gene:675 | denotes | BRCA2 |
T1 | 498-512 | disease:C0029925 | denotes | ovarian cancer |
T2 | 470-475 | gene:675 | denotes | BRCA2 |
T3 | 498-512 | disease:C1140680 | denotes | ovarian cancer |
T4 | 521-526 | gene:672 | denotes | BRCA1 |
T5 | 498-512 | disease:C0029925 | denotes | ovarian cancer |
T6 | 521-526 | gene:672 | denotes | BRCA1 |
T7 | 498-512 | disease:C1140680 | denotes | ovarian cancer |
T8 | 903-908 | gene:672 | denotes | BRCA1 |
T9 | 875-888 | disease:C0006142 | denotes | breast cancer |
T10 | 903-908 | gene:672 | denotes | BRCA1 |
T11 | 875-888 | disease:C0678222 | denotes | breast cancer |
R1 | T0 | T1 | associated_with | BRCA2,ovarian cancer |
R2 | T2 | T3 | associated_with | BRCA2,ovarian cancer |
R3 | T4 | T5 | associated_with | BRCA1,ovarian cancer |
R4 | T6 | T7 | associated_with | BRCA1,ovarian cancer |
R5 | T8 | T9 | associated_with | BRCA1,breast cancer |
R6 | T10 | T11 | associated_with | BRCA1,breast cancer |