4.5 Article

Interplay between ESR1/PIK3CA codon variants, oncogenic pathway alterations and clinical phenotype in patients with metastatic breast cancer (MBC): comprehensive circulating tumor DNA (ctDNA) analysis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Oncology

Hotspot ESR1 Mutations Are Multimodal and Contextual Modulators of Breast Cancer Metastasis

Zheqi Li et al.

Summary: This study demonstrated the potential role of ESR1 mutations in distant recurrence of breast cancer. Through transcriptomic profiling and functional experiments, it was shown that ESR1 mutations altered the cell adhesive gene network, leading to enhanced cell-cell contacts and decreased cell-extracellular matrix adhesion. Additionally, ESR1-mutant cells formed larger and more compact multicellular circulating tumor cell clusters in vivo, and ESR1 mutations were associated with enrichment of circulating tumor cell clusters in metastatic breast cancer patients.

CANCER RESEARCH (2022)

Article Oncology

Clinical Significance of PIK3CA and ESR1 Mutations in Circulating Tumor DNA: Analysis from the MONARCH 2 Study of Abemaciclib plus Fulvestrant

Sara M. Tolaney et al.

Summary: This exploratory analysis assessed the efficacy of abemaciclib plus fulvestrant in patients with or without PIK3CA or ESR1 mutations in hormone receptor-positive, HER2-negative advanced breast cancer. The results showed that abemaciclib plus fulvestrant was effective regardless of PIK3CA or ESR1 mutation status, improving progression-free survival and overall survival. The improvement in median progression-free survival was more significant in the PIK3CA or ESR1 mutant tumor subgroups compared to the wild-type subgroups.

CLINICAL CANCER RESEARCH (2022)

Article Oncology

The Use of Serial Circulating Tumor DNA to Detect Resistance Alterations in Progressive Metastatic Breast Cancer

Saya Jacob et al.

Summary: The study analyzed serial ctDNA samples to characterize genomic evolution in progressive metastatic breast cancer, showing that increased NOA and MAF were associated with disease progression. Results suggest that prospective longitudinal ctDNA evaluation could potentially monitor tumor genomic evolution and detect resistance alterations. The study highlights the importance of ctDNA as a promising tool for noninvasive longitudinal monitoring of genomic alterations in breast cancer patients.

CLINICAL CANCER RESEARCH (2021)

Article Oncology

Understanding the organ tropism of metastatic breast cancer through the combination of liquid biopsy tools

Lorenzo Gerratana et al.

Summary: The study explored the combination of circulating tumour DNA (ctDNA) analysis and circulating tumour cells (CTCs) enumeration in estimating target organs more susceptible to metastatic breast cancer (MBC) involvement. Results suggest that ctDNA and CTC enumeration could provide useful insights regarding MBC organotropism, indicating a possible role for future monitoring strategies focusing on high-risk organs defined by tumour biology.

EUROPEAN JOURNAL OF CANCER (2021)

Review Oncology

Nexus between PI3K/AKT and Estrogen Receptor Signaling in Breast Cancer

Aditi S. Khatpe et al.

Summary: Breast cancers are broadly classified into two subtypes: estrogen receptor-positive and estrogen receptor-negative. While approximately 70% of breast cancers are estrogen receptor-positive, this type is more common in postmenopausal women. Although the majority of estrogen receptor-positive breast cancers respond to anti-estrogens, approximately 30% may recur.

CANCERS (2021)

Article Oncology

Phase I Study of Elacestrant (RAD1901), a Novel Selective Estrogen Receptor Degrader, in ER-Positive, HER2-Negative Advanced Breast Cancer

Aditya Bardia et al.

Summary: This phase I study evaluated elacestrant in heavily pretreated women with estrogen receptor-positive metastatic breast cancer. The results showed that elacestrant 400 mg orally once daily has an acceptable safety profile and demonstrated single-agent activity, particularly in patients with ESR1 mutation. A phase III trial investigating elacestrant versus standard endocrine therapy is ongoing.

JOURNAL OF CLINICAL ONCOLOGY (2021)

Article Oncology

Prognosis and Genomic Landscape of Liver Metastasis in Patients With Breast Cancer

Chonglin Tian et al.

Summary: The study systematically describes the survival prognosis and characteristics of breast cancer liver metastasis from clinicopathological factors to the genetic level. It helps clinicians assess the risk of disease progression in patients with BCLM and provides new therapeutic targets.

FRONTIERS IN ONCOLOGY (2021)

Article Oncology

Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites

Soojin Cha et al.

Summary: Metastasis is the major cause of death in breast cancer patients and identifying genetic alterations specific to metastatic breast cancer (MBC) is crucial. This study integrated clinical and mutation data of 261 genes from MBC and PBC patients to identify MBC-enriched genetic alterations across various metastatic sites. Several novel genes were found to be frequently altered in MBC samples, with specific mutations associated with different metastatic sites.

NPJ BREAST CANCER (2021)

Article Oncology

Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer

Lorenzo Gerratana et al.

Summary: The study aimed to explore the potentially complementary role of circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in characterizing metastatic breast cancer (MBC). Results showed that both nCTCs and ctDNA provide complementary information about prognosis and treatment benefit, with mutant allele frequency (MAF) showing promise as a biomarker for dynamic assessment of treatment response and resistance.

JCO PRECISION ONCOLOGY (2021)

Article Oncology

Genomic Profiling of Premenopausal HR+ and HER2-Metastatic Breast Cancer by Circulating Tumor DNA and Association of Genetic Alterations With Therapeutic Response to Endocrine Therapy and Ribociclib

Aditya Bardia et al.

Summary: This study evaluated the genomic landscape of premenopausal patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative advanced breast cancer, finding multiple genetic alterations associated with poor outcomes. However, the progression-free survival benefit of ribociclib was observed regardless of gene alteration status.

JCO PRECISION ONCOLOGY (2021)

Review Oncology

ESR1 mutation as an emerging clinical biomarker in metastatic hormone receptor-positive breast cancer

Jamie O. Brett et al.

Summary: ESR1 mutations play a crucial role in breast cancer treatment, affecting tumor sensitivity to therapies. These mutations influence resistance in estrogen receptor-targeting and combination therapies, requiring further research for better understanding and treatment strategies.

BREAST CANCER RESEARCH (2021)

Article Medicine, General & Internal

Landscape of circulating tumour DNA in metastatic breast cancer

Andrew A. Davis et al.

EBIOMEDICINE (2020)

Article Oncology

The genomic landscape of breast cancer brain metastases: a systematic review

Alexander J Morgan et al.

LANCET ONCOLOGY (2020)

Article Oncology

Frequency and spectrum of PIK3CA somatic mutations in breast cancer

Olga Martinez-Saez et al.

BREAST CANCER RESEARCH (2020)

Review Genetics & Heredity

Liquid biopsy in breast cancer: A comprehensive review

Sahar Alimirzaie et al.

CLINICAL GENETICS (2019)

Review Endocrinology & Metabolism

Endocrine Resistance in Hormone Receptor Positive Breast Cancer-From Mechanism to Therapy

Aradhana Rani et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Review Oncology

ESR1 mutations in breast cancer

Derek Dustin et al.

CANCER (2019)

Article Medicine, General & Internal

Breast cancer

Nadia Harbeck et al.

NATURE REVIEWS DISEASE PRIMERS (2019)

Review Oncology

Circulating tumor DNA analysis in breast cancer: Is it ready for prime-time?

Giuseppe Buono et al.

CANCER TREATMENT REVIEWS (2019)

Article Biochemistry & Molecular Biology

Oncogenic Signaling Pathways in The Cancer Genome Atlas

Francisco Sanchez-Vega et al.

Article Biochemistry & Molecular Biology

COSMIC: somatic cancer genetics at high-resolution

Simon A. Forbes et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Genetics & Heredity

Activating ESR1 mutations in hormone-resistant metastatic breast cancer

Dan R. Robinson et al.

NATURE GENETICS (2013)