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.
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