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PubMed:8554067 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-73 Sentence denotes A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
TextSentencer_T2 74-244 Sentence denotes We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene.
TextSentencer_T3 245-406 Sentence denotes BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.
TextSentencer_T4 407-465 Sentence denotes Nine of these mutations have not been reported previously.
TextSentencer_T5 466-632 Sentence denotes The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length.
TextSentencer_T6 633-678 Sentence denotes Two mutations altered the RING finger domain.
TextSentencer_T7 679-891 Sentence denotes Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families.
TextSentencer_T8 892-979 Sentence denotes A total of eight mutations were associated with a reduced quantity of BRCA1 transcript.
TextSentencer_T9 980-1094 Sentence denotes We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1.
TextSentencer_T10 1095-1251 Sentence denotes It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1.
T1 0-73 Sentence denotes A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
T2 74-244 Sentence denotes We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene.
T3 245-406 Sentence denotes BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer.
T4 407-465 Sentence denotes Nine of these mutations have not been reported previously.
T5 466-632 Sentence denotes The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length.
T6 633-678 Sentence denotes Two mutations altered the RING finger domain.
T7 679-891 Sentence denotes Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families.
T8 892-979 Sentence denotes A total of eight mutations were associated with a reduced quantity of BRCA1 transcript.
T9 980-1094 Sentence denotes We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1.
T10 1095-1251 Sentence denotes It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 245-250 gene:672 denotes BRCA1
T1 291-305 disease:C0029925 denotes ovarian cancer
T2 245-250 gene:672 denotes BRCA1
T3 291-305 disease:C1140680 denotes ovarian cancer
T4 245-250 gene:672 denotes BRCA1
T5 384-405 disease:C0242787 denotes of male breast cancer
R1 T0 T1 associated_with BRCA1,ovarian cancer
R2 T2 T3 associated_with BRCA1,ovarian cancer
R3 T4 T5 associated_with BRCA1,of male breast cancer

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8554067-2#0#5#gene672 245-250 gene672 denotes BRCA1
8554067-2#139#160#diseaseC0242787 384-405 diseaseC0242787 denotes of male breast cancer
0#5#gene672139#160#diseaseC0242787 8554067-2#0#5#gene672 8554067-2#139#160#diseaseC0242787 associated_with BRCA1,of male breast cancer

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1945 20-25 gene:672 denotes BRCA1
T1946 49-63 disease:C0029925 denotes ovarian cancer
R1 T1945 T1946 associated_with BRCA1,ovarian cancer
R2 T1945 T1946 associated_with BRCA1,ovarian cancer

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 42-48 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 94-100 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 280-286 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T4 392-398 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T5 1153-1159 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T6 387-398 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 42-48 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 94-100 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 280-286 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T4 392-398 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T5 1153-1159 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T6 387-398 http://purl.obolibrary.org/obo/UBERON_0016410 denotes male breast

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 42-63 Modifier:D061325 denotes breast-ovarian cancer
T2 94-115 Modifier:D061325 denotes breast-ovarian cancer
T3 280-305 Modifier:D061325 denotes breast and ovarian cancer
T4 387-405 SpecificDisease:D018567 denotes male breast cancer
T5 1153-1176 SpecificDisease:D061325 denotes breast-ovarian syndrome

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T299 42-63 Modifier denotes breast-ovarian cancer D061325
T300 94-115 Modifier denotes breast-ovarian cancer D061325
T301 280-305 Modifier denotes breast and ovarian cancer D061325
T302 387-405 SpecificDisease denotes male breast cancer D018567
T303 1153-1176 SpecificDisease denotes breast-ovarian syndrome D061325

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T299 42-63 Modifier denotes breast-ovarian cancer D061325
T300 94-115 Modifier denotes breast-ovarian cancer D061325
T301 280-305 Modifier denotes breast and ovarian cancer D061325
T302 387-405 SpecificDisease denotes male breast cancer D018567
T303 1153-1176 SpecificDisease denotes breast-ovarian syndrome D061325

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 42-63 CompositeMention denotes breast-ovarian cancer
T2 94-115 CompositeMention denotes breast-ovarian cancer
T3 280-286 SpecificDisease denotes breast
T4 291-305 SpecificDisease denotes ovarian cancer
T5 392-405 SpecificDisease denotes breast cancer
T6 1153-1176 CompositeMention denotes breast-ovarian syndrome

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 42-63 CompositeMention denotes breast-ovarian cancer
T2 94-115 CompositeMention denotes breast-ovarian cancer
T3 280-305 CompositeMention denotes breast and ovarian cancer
T4 392-405 SpecificDisease denotes breast cancer
T5 1153-1176 CompositeMention denotes breast-ovarian syndrome

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 42-63 CompositeMention denotes breast-ovarian cancer
T2 94-115 CompositeMention denotes breast-ovarian cancer
T3 280-305 CompositeMention denotes breast and ovarian cancer
T4 387-405 SpecificDisease denotes male breast cancer
T5 1153-1176 DiseaseClass denotes breast-ovarian syndrome

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 42-63 CompositeMention denotes breast-ovarian cancer
T2 94-115 CompositeMention denotes breast-ovarian cancer
T3 280-286 SpecificDisease denotes breast
T4 291-305 SpecificDisease denotes ovarian cancer
T5 387-405 SpecificDisease denotes male breast cancer
T6 1153-1176 CompositeMention denotes breast-ovarian syndrome