What question did this study set out to answer?

To identify genomic alterations and evolutionary mechanisms driving acquired resistance to adjuvant endocrine therapy in relapsing HR-positive, HER2-negative breast cancer.

January 3, 2023PLoS GeneticsOpen Access

ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC)

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Authors

LFLorenzo FerrandoUniversity of Genoa AVAndrea VingianiUniversity of Milan AGAnna GarutiOspedale Policlinico San Martino

Discussion

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Implication

Genomic study uncovers ESR1 amplification and MAP3K mutations following estrogen-deprivation therapy in HR+ HER2- breast cancer, indicating key drivers of acquired drug resistance.

Key Points

To identify genomic alterations and evolutionary mechanisms driving acquired resistance to adjuvant endocrine therapy in relapsing HR-positive, HER2-negative breast cancer.
Evaluated gene mutations and copy number variations using a targeted sequencing panel on 74 matched primary and metastatic tumor pairs from an original cohort of 204 patients.
Confirmed ESR1 gene amplification by fluorescence in situ hybridization (FISH) and correlated genomic findings with specific adjuvant endocrine regimens and survival metrics.
ESR1 gene amplification and MAP3K mutations were significantly enriched in metastatic lesions compared to primary tumors, occurring exclusively in patients treated with aromatase inhibitors or LHRH analogs plus tamoxifen.
Metastatic tumors harboring MAP3K mutations were associated with significantly worse distant relapse-free survival (HR 3.4, 95% CI 1.52–7.70, P = 0.003) and worse overall survival (HR 5.2, 95% CI 2.10–12.8, P < 0.001).

Cite This Study

Ferrando et al. (2023) studied this question.

synapsesocial.com/papers/6a8c714ef5ce60b7d36c15aa https://doi.org/10.1371/journal.pgen.1010563

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Implication

Genomic study uncovers ESR1 amplification and MAP3K mutations following estrogen-deprivation therapy in HR+ HER2- breast cancer, indicating key drivers of acquired drug resistance.

ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC)

Discussion

Member takes

Implication

Key Points

Cite This Study

ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC)

Discussion

Member takes

Implication

Key Points

Cite This Study

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