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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Escala-Garcia, Maria ; Augustinsson, Annelie LU ; Olsson, Håkan LU orcid and Schmidt, Marjanka K. (2021) In Scientific Reports 11(1).
Abstract
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P =... (More)
Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations. © 2021, The Author(s). (Less)
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Contribution to journal
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published
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Scientific Reports
volume
11
issue
1
article number
19787
publisher
Nature Publishing Group
external identifiers
  • scopus:85116813839
  • pmid:34611289
ISSN
2045-2322
DOI
10.1038/s41598-021-99409-3
language
English
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yes
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690ed712-0b3c-478a-9891-9055bf8dd4cc
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85116813839&doi=10.1038%2fs41598-021-99409-3&partnerID=40&md5=4d4fc62114fd923935452cb8d3dba9f1
date added to LUP
2021-12-15 13:53:33
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2022-04-27 06:44:13
@article{690ed712-0b3c-478a-9891-9055bf8dd4cc,
  abstract     = {{Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations. © 2021, The Author(s).}},
  author       = {{Escala-Garcia, Maria and Augustinsson, Annelie and Olsson, Håkan and Schmidt, Marjanka K.}},
  issn         = {{2045-2322}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Scientific Reports}},
  title        = {{Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis}},
  url          = {{http://dx.doi.org/10.1038/s41598-021-99409-3}},
  doi          = {{10.1038/s41598-021-99409-3}},
  volume       = {{11}},
  year         = {{2021}},
}