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| 001 | 143220 | ||
| 005 | 20240229112544.0 | ||
| 024 | 7 | _ | |a 10.1038/s41416-019-0393-x |2 doi |
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| 041 | _ | _ | |a eng |
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| 100 | 1 | _ | |a Escala-Garcia, Maria |b 0 |
| 245 | _ | _ | |a Genome-wide association study of germline variants and breast cancer-specific mortality. |
| 260 | _ | _ | |a Edinburgh |c 2019 |b Nature Publ. Group |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1555334983_17191 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP).We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster.We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients. |
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| 920 | 1 | _ | |0 I:(DE-He78)C080-20160331 |k C080 |l Molekulare Epidemiologie |x 2 |
| 920 | 1 | _ | |0 I:(DE-He78)C055-20160331 |k C055 |l Genomische Epidemiologie |x 3 |
| 920 | 1 | _ | |0 I:(DE-He78)B072-20160331 |k B072 |l Molekulargenetik des Mammakarzinoms |x 4 |
| 920 | 1 | _ | |0 I:(DE-He78)L101-20160331 |k L101 |l DKTK Heidelberg |x 5 |
| 920 | 1 | _ | |0 I:(DE-He78)L801-20160331 |k L801 |l DKTK Tübingen |x 6 |
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| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)C070-20160331 |
| 980 | _ | _ | |a I:(DE-He78)C020-20160331 |
| 980 | _ | _ | |a I:(DE-He78)C080-20160331 |
| 980 | _ | _ | |a I:(DE-He78)C055-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B072-20160331 |
| 980 | _ | _ | |a I:(DE-He78)L101-20160331 |
| 980 | _ | _ | |a I:(DE-He78)L801-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
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