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.
Highlights
Breast cancer metastasis accounts for most of the deaths from breast cancer
We used data from the Breast Cancer Association Consortium (BCAC): the dataset comprised data from 50 studies from which follow-up information for women diagnosed with distant metastases at primary breast cancer diagnosis was available
We analyzed the genotypes and clinico-pathological data of a total of 1062 breast cancer patients, 606 of whom died of breast cancer within 15 years of follow-up
Summary
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. Comprehensive Cancer Center Erlangen‐EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany. Germline variants could provide metastatic predisposition by affecting treatment r esponse[11] or promoting tumor initiating events and providing new metastatic functions to tumor c ells[4]
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