Publication
De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (5)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 5
- cancerMalignant Breast Neoplasmcivic_curation1.00
- geneBRCA1civic_curation1.00
- geneBRCA2civic_curation1.00
- variantBRCA1 Alu insertioncivic_curation1.00
- variantBRCA2 TRUNCATING MUTATIONcivic_curation1.00
Curated evidence
Evidence citing this paper (2)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 16088935
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| BRCA1 Alu insertion1 | ||||||||
| (predisposing) | Malignant Breast Neoplasm | Predisposing | C | Supports Predisposition | 3 | accepted | EID1759In a Portuguese family with 6 cases of breast cancer and 1 of ovarian cancer, a 46 year old woman was diagnosed with breast cancer. She was negative for BRCA1/2 mutations using standard methods but a … (full text at CIViC) PMID 16088935 · Teugels et al., 2005 · Open in CIViC | civic |
| BRCA2 TRUNCATING MUTATION1 | ||||||||
| (predisposing) | Malignant Breast Neoplasm | Predisposing | C | Supports Predisposition | 1 | accepted | EID1758De novo Alu element insertions were identified within the BRCA2 coding sequences in 3 out of 50 Portuguese families. However, the segregation data and mRNA results in this study were conflicting or in… (full text at CIViC) PMID 16088935 · Teugels et al., 2005 · Open in CIViC | civic |