Cristin-resultat-ID: 2004616
Sist endret: 2. mars 2022, 13:45
NVI-rapporteringsår: 2021
Resultat
Vitenskapelig artikkel
2021

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

Bidragsytere:
  • Maria Escala-Garcia
  • Sander Canisius
  • Renske Keeman
  • Jonathan Beesley
  • Hoda Anton-Culver
  • Volker Arndt
  • mfl.

Tidsskrift

Scientific Reports
ISSN 2045-2322
e-ISSN 2045-2322
NVI-nivå 1

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2021
Volum: 11:19787
Sider: 1 - 11
Open Access

Importkilder

Scopus-ID: 2-s2.0-85116813839

Beskrivelse Beskrivelse

Tittel

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

Sammendrag

Breast cancer metastasis accounts for most of the deaths from breast cancer. Identifcation 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 identifed two germline variants on chromosome 1, rs138569520 and rs146023652, signifcantly associated with breast cancer-specifc survival (P= 3.19 × ­10−8 and 4.42 × ­10−8). In silico analysis suggested a potential regulatory efect 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 confrm the identifed associations.

Bidragsytere

Maria Escala-Garcia

  • Tilknyttet:
    Forfatter
    ved Nederlands Kanker Instituut - Antoni van Leeuwenhoek Ziekenhuis

Sander Canisius

  • Tilknyttet:
    Forfatter
    ved Nederlands Kanker Instituut - Antoni van Leeuwenhoek Ziekenhuis

Renske Keeman

  • Tilknyttet:
    Forfatter
    ved Nederlands Kanker Instituut - Antoni van Leeuwenhoek Ziekenhuis

Jonathan Beesley

  • Tilknyttet:
    Forfatter
    ved Queensland Institute of Medical Research

Hoda Anton-Culver

  • Tilknyttet:
    Forfatter
    ved University of California, Irvine
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