PubMed:11844822
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-96 | Sentence | denotes | BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. |
| TextSentencer_T2 | 97-105 | Sentence | denotes | PURPOSE: |
| TextSentencer_T3 | 106-228 | Sentence | denotes | To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic. |
| TextSentencer_T4 | 229-250 | Sentence | denotes | PATIENTS AND METHODS: |
| TextSentencer_T5 | 251-447 | Sentence | denotes | One hundred sixty-four families seeking breast cancer risk evaluation were screened for coding region mutations in BRCA1 and BRCA2 by conformation-sensitive gel electrophoresis and DNA sequencing. |
| TextSentencer_T6 | 448-456 | Sentence | denotes | RESULTS: |
| TextSentencer_T7 | 457-574 | Sentence | denotes | Mutations were identified in 37 families (22.6%); 28 (17.1%) had BRCA1 mutations and nine (5.5%) had BRCA2 mutations. |
| TextSentencer_T8 | 575-677 | Sentence | denotes | The Ashkenazi Jewish founder mutations 185delAG and 5382insC (BRCA1) were found in 10 families (6.1%). |
| TextSentencer_T9 | 678-805 | Sentence | denotes | However, 6174delT (BRCA2) was found in only one family (0.6%) despite estimates of equal frequency in the Ashkenazi population. |
| TextSentencer_T10 | 806-987 | Sentence | denotes | In contrast to other series, the average age of breast cancer diagnosis was earlier in BRCA2 mutation carriers (32.1 years) than in women with BRCA1 mutations (37.6 years, P =.028). |
| TextSentencer_T11 | 988-1154 | Sentence | denotes | BRCA1 mutations were detected in 20 (45.5%) of 44 families with ovarian cancer and 12 (75%) of 16 families with both breast and ovarian cancer in a single individual. |
| TextSentencer_T12 | 1155-1265 | Sentence | denotes | Significantly fewer BRCA2 mutations (two [4.5%] of 44) were detected in families with ovarian cancer (P =.01). |
| TextSentencer_T13 | 1266-1360 | Sentence | denotes | Eight families had male breast cancer; one had a BRCA1 mutation and three had BRCA2 mutations. |
| TextSentencer_T14 | 1361-1442 | Sentence | denotes | CONCLUSION: BRCA1 mutations were three times more prevalent than BRCA2 mutations. |
| TextSentencer_T15 | 1443-1733 | Sentence | denotes | Breast cancer diagnosis before 50 years of age, ovarian cancer, breast and ovarian cancer in a single individual, and male breast cancer were all significantly more common in families with BRCA1 and BRCA2 mutations, but none of these factors distinguished between BRCA1 and BRCA2 mutations. |
| TextSentencer_T16 | 1734-1834 | Sentence | denotes | Evidence for reduced breast cancer penetrance associated with the BRCA2 mutation 6174delT was noted. |
| T1 | 0-96 | Sentence | denotes | BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. |
| T2 | 97-105 | Sentence | denotes | PURPOSE: |
| T3 | 106-228 | Sentence | denotes | To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic. |
| T4 | 229-250 | Sentence | denotes | PATIENTS AND METHODS: |
| T5 | 251-447 | Sentence | denotes | One hundred sixty-four families seeking breast cancer risk evaluation were screened for coding region mutations in BRCA1 and BRCA2 by conformation-sensitive gel electrophoresis and DNA sequencing. |
| T6 | 448-456 | Sentence | denotes | RESULTS: |
| T7 | 457-574 | Sentence | denotes | Mutations were identified in 37 families (22.6%); 28 (17.1%) had BRCA1 mutations and nine (5.5%) had BRCA2 mutations. |
| T8 | 575-677 | Sentence | denotes | The Ashkenazi Jewish founder mutations 185delAG and 5382insC (BRCA1) were found in 10 families (6.1%). |
| T9 | 678-805 | Sentence | denotes | However, 6174delT (BRCA2) was found in only one family (0.6%) despite estimates of equal frequency in the Ashkenazi population. |
| T10 | 806-987 | Sentence | denotes | In contrast to other series, the average age of breast cancer diagnosis was earlier in BRCA2 mutation carriers (32.1 years) than in women with BRCA1 mutations (37.6 years, P =.028). |
| T11 | 988-1154 | Sentence | denotes | BRCA1 mutations were detected in 20 (45.5%) of 44 families with ovarian cancer and 12 (75%) of 16 families with both breast and ovarian cancer in a single individual. |
| T12 | 1155-1265 | Sentence | denotes | Significantly fewer BRCA2 mutations (two [4.5%] of 44) were detected in families with ovarian cancer (P =.01). |
| T13 | 1266-1360 | Sentence | denotes | Eight families had male breast cancer; one had a BRCA1 mutation and three had BRCA2 mutations. |
| T14 | 1361-1442 | Sentence | denotes | CONCLUSION: BRCA1 mutations were three times more prevalent than BRCA2 mutations. |
| T15 | 1443-1733 | Sentence | denotes | Breast cancer diagnosis before 50 years of age, ovarian cancer, breast and ovarian cancer in a single individual, and male breast cancer were all significantly more common in families with BRCA1 and BRCA2 mutations, but none of these factors distinguished between BRCA1 and BRCA2 mutations. |
| T16 | 1734-1834 | Sentence | denotes | Evidence for reduced breast cancer penetrance associated with the BRCA2 mutation 6174delT was noted. |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 11844822-0#0#5#gene672 | 0-5 | gene672 | denotes | BRCA1 |
| 11844822-0#10#15#gene675 | 10-15 | gene675 | denotes | BRCA2 |
| 11844822-0#59#72#diseaseC0006142 | 59-72 | diseaseC0006142 | denotes | breast cancer |
| 11844822-0#59#72#diseaseC0678222 | 59-72 | diseaseC0678222 | denotes | breast cancer |
| 11844822-0#59#72#diseaseC0006142 | 59-72 | diseaseC0006142 | denotes | breast cancer |
| 11844822-0#59#72#diseaseC0678222 | 59-72 | diseaseC0678222 | denotes | breast cancer |
| 11844822-11#189#194#gene672 | 1632-1637 | gene672 | denotes | BRCA1 |
| 11844822-11#75#89#diseaseC0029925 | 1518-1532 | diseaseC0029925 | denotes | ovarian cancer |
| 11844822-11#75#89#diseaseC1140680 | 1518-1532 | diseaseC1140680 | denotes | ovarian cancer |
| 11844822-11#118#136#diseaseC0238033 | 1561-1579 | diseaseC0238033 | denotes | male breast cancer |
| 11844822-11#118#136#diseaseC0242787 | 1561-1579 | diseaseC0242787 | denotes | male breast cancer |
| 11844822-8#20#25#gene675 | 1175-1180 | gene675 | denotes | BRCA2 |
| 11844822-8#86#100#diseaseC0029925 | 1241-1255 | diseaseC0029925 | denotes | ovarian cancer |
| 11844822-8#86#100#diseaseC1140680 | 1241-1255 | diseaseC1140680 | denotes | ovarian cancer |
| 0#5#gene67259#72#diseaseC0006142 | 11844822-0#0#5#gene672 | 11844822-0#59#72#diseaseC0006142 | associated_with | BRCA1,breast cancer |
| 0#5#gene67259#72#diseaseC0678222 | 11844822-0#0#5#gene672 | 11844822-0#59#72#diseaseC0678222 | associated_with | BRCA1,breast cancer |
| 0#5#gene67259#72#diseaseC0006142 | 11844822-0#0#5#gene672 | 11844822-0#59#72#diseaseC0006142 | associated_with | BRCA1,breast cancer |
| 0#5#gene67259#72#diseaseC0678222 | 11844822-0#0#5#gene672 | 11844822-0#59#72#diseaseC0678222 | associated_with | BRCA1,breast cancer |
| 10#15#gene67559#72#diseaseC0006142 | 11844822-0#10#15#gene675 | 11844822-0#59#72#diseaseC0006142 | associated_with | BRCA2,breast cancer |
| 10#15#gene67559#72#diseaseC0678222 | 11844822-0#10#15#gene675 | 11844822-0#59#72#diseaseC0678222 | associated_with | BRCA2,breast cancer |
| 10#15#gene67559#72#diseaseC0006142 | 11844822-0#10#15#gene675 | 11844822-0#59#72#diseaseC0006142 | associated_with | BRCA2,breast cancer |
| 10#15#gene67559#72#diseaseC0678222 | 11844822-0#10#15#gene675 | 11844822-0#59#72#diseaseC0678222 | associated_with | BRCA2,breast cancer |
| 189#194#gene67275#89#diseaseC0029925 | 11844822-11#189#194#gene672 | 11844822-11#75#89#diseaseC0029925 | associated_with | BRCA1,ovarian cancer |
| 189#194#gene67275#89#diseaseC1140680 | 11844822-11#189#194#gene672 | 11844822-11#75#89#diseaseC1140680 | associated_with | BRCA1,ovarian cancer |
| 189#194#gene672118#136#diseaseC0238033 | 11844822-11#189#194#gene672 | 11844822-11#118#136#diseaseC0238033 | associated_with | BRCA1,male breast cancer |
| 189#194#gene672118#136#diseaseC0242787 | 11844822-11#189#194#gene672 | 11844822-11#118#136#diseaseC0242787 | associated_with | BRCA1,male breast cancer |
| 20#25#gene67586#100#diseaseC0029925 | 11844822-8#20#25#gene675 | 11844822-8#86#100#diseaseC0029925 | associated_with | BRCA2,ovarian cancer |
| 20#25#gene67586#100#diseaseC1140680 | 11844822-8#20#25#gene675 | 11844822-8#86#100#diseaseC1140680 | associated_with | BRCA2,ovarian cancer |
DisGeNet-2017-sample
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1943 | 1175-1180 | gene:675 | denotes | BRCA2 |
| T1944 | 1241-1255 | disease:C0029925 | denotes | ovarian cancer |
| R1 | T1943 | T1944 | associated_with | BRCA2,ovarian cancer |
| R2 | T1943 | T1944 | associated_with | BRCA2,ovarian cancer |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 59-65 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T2 | 191-197 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T3 | 291-297 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T4 | 854-860 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T5 | 1105-1111 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T6 | 1290-1296 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T7 | 1507-1513 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T8 | 1566-1572 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T9 | 1755-1761 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T10 | 1285-1296 | http://purl.obolibrary.org/obo/UBERON_0016410 | denotes | male breast |
| PD-UBERON-AE-B_T11 | 1561-1572 | http://purl.obolibrary.org/obo/UBERON_0016410 | denotes | male breast |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 59-65 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T2 | 191-197 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T3 | 291-297 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T4 | 854-860 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T5 | 1105-1111 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T6 | 1290-1296 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T7 | 1443-1449 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | Breast |
| PD-UBERON-AE-B_T8 | 1507-1513 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T9 | 1566-1572 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T10 | 1755-1761 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T11 | 1285-1296 | http://purl.obolibrary.org/obo/UBERON_0016410 | denotes | male breast |
| PD-UBERON-AE-B_T12 | 1561-1572 | http://purl.obolibrary.org/obo/UBERON_0016410 | denotes | male breast |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1175-1180 | gene:675 | denotes | BRCA2 |
| T1 | 1241-1255 | disease:C0029925 | denotes | ovarian cancer |
| T2 | 1175-1180 | gene:675 | denotes | BRCA2 |
| T3 | 1241-1255 | disease:C1140680 | denotes | ovarian cancer |
| R1 | T0 | T1 | associated_with | BRCA2,ovarian cancer |
| R2 | T2 | T3 | associated_with | BRCA2,ovarian cancer |