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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-143 Sentence denotes Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.
TextSentencer_T2 144-477 Sentence denotes Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breast cancer susceptibility genes BRCA1 and BRCA2.
TextSentencer_T3 478-642 Sentence denotes Overall, the prevalence of mutations was 43% in female breast/ovarian cancer families, 15% in female breast cancer families and 100% in male breast cancer families.
TextSentencer_T4 643-741 Sentence denotes Three recurrent mutations (185delAG, 589delCT and A1708E) explained 63% of BRCA1-related families.
TextSentencer_T5 742-978 Sentence denotes Early age at diagnosis of breast cancer, ovarian cancer, bilateral breast cancer, concomitant breast/ovarian cancer in a single patient and prostate cancer but not unilateral breast cancer were associated with BRCA1 and BRCA2 mutations.
TextSentencer_T6 979-1034 Sentence denotes Male breast cancer was associated with BRCA2 mutations.
TextSentencer_T7 1035-1154 Sentence denotes The presence of male breast cancer was the only cancer phenotype that distinguished BRCA2- from BRCA1-related families.
TextSentencer_T8 1155-1342 Sentence denotes We have developed a logistic regression model for predicting the probability of harbouring a mutation in either BRCA1 or BRCA2 as a function of the cancer phenotype present in the family.
TextSentencer_T9 1343-1462 Sentence denotes The predictive positive and negative values of this model were 77.4% and 79%, respectively (probability cutoff of 30%).
TextSentencer_T10 1463-1593 Sentence denotes The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics.
T1 0-143 Sentence denotes Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.
T2 144-477 Sentence denotes Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breast cancer susceptibility genes BRCA1 and BRCA2.
T3 478-642 Sentence denotes Overall, the prevalence of mutations was 43% in female breast/ovarian cancer families, 15% in female breast cancer families and 100% in male breast cancer families.
T4 643-741 Sentence denotes Three recurrent mutations (185delAG, 589delCT and A1708E) explained 63% of BRCA1-related families.
T5 742-978 Sentence denotes Early age at diagnosis of breast cancer, ovarian cancer, bilateral breast cancer, concomitant breast/ovarian cancer in a single patient and prostate cancer but not unilateral breast cancer were associated with BRCA1 and BRCA2 mutations.
T6 979-1034 Sentence denotes Male breast cancer was associated with BRCA2 mutations.
T7 1035-1154 Sentence denotes The presence of male breast cancer was the only cancer phenotype that distinguished BRCA2- from BRCA1-related families.
T8 1155-1342 Sentence denotes We have developed a logistic regression model for predicting the probability of harbouring a mutation in either BRCA1 or BRCA2 as a function of the cancer phenotype present in the family.
T9 1343-1462 Sentence denotes The predictive positive and negative values of this model were 77.4% and 79%, respectively (probability cutoff of 30%).
T10 1463-1593 Sentence denotes The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11802208-1#317#322#gene672 461-466 gene672 denotes BRCA1
11802208-1#327#332#gene675 471-476 gene675 denotes BRCA2
11802208-1#282#295#diseaseC0006142 426-439 diseaseC0006142 denotes breast cancer
11802208-1#282#295#diseaseC0678222 426-439 diseaseC0678222 denotes breast cancer
11802208-1#282#295#diseaseC0006142 426-439 diseaseC0006142 denotes breast cancer
11802208-1#282#295#diseaseC0678222 426-439 diseaseC0678222 denotes breast cancer
11802208-4#210#215#gene672 952-957 gene672 denotes BRCA1
11802208-4#220#225#gene675 962-967 gene675 denotes BRCA2
11802208-4#101#115#diseaseC0029925 843-857 diseaseC0029925 denotes ovarian cancer
11802208-4#101#115#diseaseC1140680 843-857 diseaseC1140680 denotes ovarian cancer
11802208-4#140#155#diseaseC0376358 882-897 diseaseC0376358 denotes prostate cancer
11802208-4#140#155#diseaseC0600139 882-897 diseaseC0600139 denotes prostate cancer
11802208-4#164#188#diseaseC1710547 906-930 diseaseC1710547 denotes unilateral breast cancer
11802208-4#164#188#diseaseC4018978 906-930 diseaseC4018978 denotes unilateral breast cancer
11802208-4#101#115#diseaseC0029925 843-857 diseaseC0029925 denotes ovarian cancer
11802208-4#101#115#diseaseC1140680 843-857 diseaseC1140680 denotes ovarian cancer
11802208-4#140#155#diseaseC0376358 882-897 diseaseC0376358 denotes prostate cancer
11802208-4#140#155#diseaseC0600139 882-897 diseaseC0600139 denotes prostate cancer
11802208-4#164#188#diseaseC1710547 906-930 diseaseC1710547 denotes unilateral breast cancer
11802208-4#164#188#diseaseC4018978 906-930 diseaseC4018978 denotes unilateral breast cancer
11802208-5#39#44#gene675 1018-1023 gene675 denotes BRCA2
11802208-5#0#18#diseaseC0238033 979-997 diseaseC0238033 denotes Male breast cancer
11802208-5#0#18#diseaseC0242787 979-997 diseaseC0242787 denotes Male breast cancer
317#322#gene672282#295#diseaseC0006142 11802208-1#317#322#gene672 11802208-1#282#295#diseaseC0006142 associated_with BRCA1,breast cancer
317#322#gene672282#295#diseaseC0678222 11802208-1#317#322#gene672 11802208-1#282#295#diseaseC0678222 associated_with BRCA1,breast cancer
317#322#gene672282#295#diseaseC0006142 11802208-1#317#322#gene672 11802208-1#282#295#diseaseC0006142 associated_with BRCA1,breast cancer
317#322#gene672282#295#diseaseC0678222 11802208-1#317#322#gene672 11802208-1#282#295#diseaseC0678222 associated_with BRCA1,breast cancer
327#332#gene675282#295#diseaseC0006142 11802208-1#327#332#gene675 11802208-1#282#295#diseaseC0006142 associated_with BRCA2,breast cancer
327#332#gene675282#295#diseaseC0678222 11802208-1#327#332#gene675 11802208-1#282#295#diseaseC0678222 associated_with BRCA2,breast cancer
327#332#gene675282#295#diseaseC0006142 11802208-1#327#332#gene675 11802208-1#282#295#diseaseC0006142 associated_with BRCA2,breast cancer
327#332#gene675282#295#diseaseC0678222 11802208-1#327#332#gene675 11802208-1#282#295#diseaseC0678222 associated_with BRCA2,breast cancer
210#215#gene672101#115#diseaseC0029925 11802208-4#210#215#gene672 11802208-4#101#115#diseaseC0029925 associated_with BRCA1,ovarian cancer
210#215#gene672101#115#diseaseC1140680 11802208-4#210#215#gene672 11802208-4#101#115#diseaseC1140680 associated_with BRCA1,ovarian cancer
210#215#gene672140#155#diseaseC0376358 11802208-4#210#215#gene672 11802208-4#140#155#diseaseC0376358 associated_with BRCA1,prostate cancer
210#215#gene672140#155#diseaseC0600139 11802208-4#210#215#gene672 11802208-4#140#155#diseaseC0600139 associated_with BRCA1,prostate cancer
210#215#gene672164#188#diseaseC1710547 11802208-4#210#215#gene672 11802208-4#164#188#diseaseC1710547 associated_with BRCA1,unilateral breast cancer
210#215#gene672164#188#diseaseC4018978 11802208-4#210#215#gene672 11802208-4#164#188#diseaseC4018978 associated_with BRCA1,unilateral breast cancer
210#215#gene672101#115#diseaseC0029925 11802208-4#210#215#gene672 11802208-4#101#115#diseaseC0029925 associated_with BRCA1,ovarian cancer
210#215#gene672101#115#diseaseC1140680 11802208-4#210#215#gene672 11802208-4#101#115#diseaseC1140680 associated_with BRCA1,ovarian cancer
210#215#gene672140#155#diseaseC0376358 11802208-4#210#215#gene672 11802208-4#140#155#diseaseC0376358 associated_with BRCA1,prostate cancer
210#215#gene672140#155#diseaseC0600139 11802208-4#210#215#gene672 11802208-4#140#155#diseaseC0600139 associated_with BRCA1,prostate cancer
210#215#gene672164#188#diseaseC1710547 11802208-4#210#215#gene672 11802208-4#164#188#diseaseC1710547 associated_with BRCA1,unilateral breast cancer
210#215#gene672164#188#diseaseC4018978 11802208-4#210#215#gene672 11802208-4#164#188#diseaseC4018978 associated_with BRCA1,unilateral breast cancer
220#225#gene675101#115#diseaseC0029925 11802208-4#220#225#gene675 11802208-4#101#115#diseaseC0029925 associated_with BRCA2,ovarian cancer
220#225#gene675101#115#diseaseC1140680 11802208-4#220#225#gene675 11802208-4#101#115#diseaseC1140680 associated_with BRCA2,ovarian cancer
220#225#gene675140#155#diseaseC0376358 11802208-4#220#225#gene675 11802208-4#140#155#diseaseC0376358 associated_with BRCA2,prostate cancer
220#225#gene675140#155#diseaseC0600139 11802208-4#220#225#gene675 11802208-4#140#155#diseaseC0600139 associated_with BRCA2,prostate cancer
220#225#gene675164#188#diseaseC1710547 11802208-4#220#225#gene675 11802208-4#164#188#diseaseC1710547 associated_with BRCA2,unilateral breast cancer
220#225#gene675164#188#diseaseC4018978 11802208-4#220#225#gene675 11802208-4#164#188#diseaseC4018978 associated_with BRCA2,unilateral breast cancer
220#225#gene675101#115#diseaseC0029925 11802208-4#220#225#gene675 11802208-4#101#115#diseaseC0029925 associated_with BRCA2,ovarian cancer
220#225#gene675101#115#diseaseC1140680 11802208-4#220#225#gene675 11802208-4#101#115#diseaseC1140680 associated_with BRCA2,ovarian cancer
220#225#gene675140#155#diseaseC0376358 11802208-4#220#225#gene675 11802208-4#140#155#diseaseC0376358 associated_with BRCA2,prostate cancer
220#225#gene675140#155#diseaseC0600139 11802208-4#220#225#gene675 11802208-4#140#155#diseaseC0600139 associated_with BRCA2,prostate cancer
220#225#gene675164#188#diseaseC1710547 11802208-4#220#225#gene675 11802208-4#164#188#diseaseC1710547 associated_with BRCA2,unilateral breast cancer
220#225#gene675164#188#diseaseC4018978 11802208-4#220#225#gene675 11802208-4#164#188#diseaseC4018978 associated_with BRCA2,unilateral breast cancer
39#44#gene6750#18#diseaseC0238033 11802208-5#39#44#gene675 11802208-5#0#18#diseaseC0238033 associated_with BRCA2,Male breast cancer
39#44#gene6750#18#diseaseC0242787 11802208-5#39#44#gene675 11802208-5#0#18#diseaseC0242787 associated_with BRCA2,Male breast cancer

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2274 952-957 gene:672 denotes BRCA1
T2275 843-857 disease:C0029925 denotes ovarian cancer
T2276 882-897 disease:C0376358 denotes prostate cancer
T2277 906-930 disease:C1710547 denotes unilateral breast cancer
T2278 962-967 gene:675 denotes BRCA2
T2279 1018-1023 gene:675 denotes BRCA2
T2280 979-997 disease:C0238033 denotes Male breast cancer
R1 T2274 T2275 associated_with BRCA1,ovarian cancer
R2 T2274 T2275 associated_with BRCA1,ovarian cancer
R3 T2274 T2276 associated_with BRCA1,prostate cancer
R4 T2274 T2276 associated_with BRCA1,prostate cancer
R5 T2274 T2277 associated_with BRCA1,unilateral breast cancer
R6 T2274 T2277 associated_with BRCA1,unilateral breast cancer
R7 T2278 T2275 associated_with BRCA2,ovarian cancer
R8 T2278 T2275 associated_with BRCA2,ovarian cancer
R9 T2278 T2276 associated_with BRCA2,prostate cancer
R10 T2278 T2276 associated_with BRCA2,prostate cancer
R11 T2278 T2277 associated_with BRCA2,unilateral breast cancer
R12 T2278 T2277 associated_with BRCA2,unilateral breast cancer
R13 T2279 T2280 associated_with BRCA2,Male breast cancer
R14 T2279 T2280 associated_with BRCA2,Male breast cancer

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 78-84 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 239-245 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 426-432 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T4 533-539 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T5 579-585 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T6 619-625 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T7 768-774 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T8 809-815 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T9 836-842 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T10 917-923 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T11 984-990 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T12 1056-1062 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T13 614-625 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast
PD-UBERON-AE-B_T14 1051-1062 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 78-84 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 239-245 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 426-432 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T4 533-539 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T5 579-585 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T6 619-625 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T7 768-774 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T8 809-815 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T9 836-842 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T10 917-923 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T11 984-990 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T12 1056-1062 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T13 614-625 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast
PD-UBERON-AE-B_T14 979-990 http://purl.obolibrary.org/obo/UBERON_0016410 denotes Male breast
PD-UBERON-AE-B_T15 1051-1062 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast

DisGeNET

Id Subject Object Predicate Lexical cue
T0 461-466 gene:672 denotes BRCA1
T1 253-267 disease:C0029925 denotes ovarian cancer
T2 461-466 gene:672 denotes BRCA1
T3 253-267 disease:C1140680 denotes ovarian cancer
T4 461-466 gene:672 denotes BRCA1
T5 426-439 disease:C0006142 denotes breast cancer
T6 461-466 gene:672 denotes BRCA1
T7 426-439 disease:C0678222 denotes breast cancer
T8 471-476 gene:675 denotes BRCA2
T9 253-267 disease:C0029925 denotes ovarian cancer
T10 471-476 gene:675 denotes BRCA2
T11 253-267 disease:C1140680 denotes ovarian cancer
T12 471-476 gene:675 denotes BRCA2
T13 426-439 disease:C0006142 denotes breast cancer
T14 471-476 gene:675 denotes BRCA2
T15 426-439 disease:C0678222 denotes breast cancer
R1 T0 T1 associated_with BRCA1,ovarian cancer
R2 T2 T3 associated_with BRCA1,ovarian cancer
R3 T4 T5 associated_with BRCA1,breast cancer
R4 T6 T7 associated_with BRCA1,breast cancer
R5 T8 T9 associated_with BRCA2,ovarian cancer
R6 T10 T11 associated_with BRCA2,ovarian cancer
R7 T12 T13 associated_with BRCA2,breast cancer
R8 T14 T15 associated_with BRCA2,breast cancer