Systemic investigations into the molecular features of bilateral breast cancer for diagnostic purposes

Imyanitov, Evgeny N.; Kuligina, E.

doi:10.1080/14737159.2020.1705157

Cited by 6 publications

(5 citation statements)

References 56 publications

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“… 29 Immune checkpoint inhibitors could be used for MSI‐H cancers, which is a reminder to carry out comprehensive genetic tests and MSI status tests of BPBC patients to provide the potential to develop more available treatment strategies. 30 For somatic mutations, our results show that BPBC patients have similar mutation spectra among common mutations compared with UBC patients, which suggests that BPBC patients can be treated as UBC patients in terms of somatic mutations, but more data are needed to confirm this. Moreover, the large study enrolled 313 SBPBC patients suggested that somatic genetic aspects in tumors on the left and right sides of SBPBC patients were independent.…”

Section: Discussionmentioning

confidence: 59%

“…Although our study had no BPBC patients with microsatellite instability‐high (MSI‐H) status (data not shown), a previous study showed that 10.0% (6/60) of MBPBC patients had MSI‐H status and 1/22 (5.0%) patients with SBPBC was identified to have MSI‐H status 29 . Immune checkpoint inhibitors could be used for MSI‐H cancers, which is a reminder to carry out comprehensive genetic tests and MSI status tests of BPBC patients to provide the potential to develop more available treatment strategies 30 . For somatic mutations, our results show that BPBC patients have similar mutation spectra among common mutations compared with UBC patients, which suggests that BPBC patients can be treated as UBC patients in terms of somatic mutations, but more data are needed to confirm this.…”

Section: Discussionmentioning

confidence: 93%

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A study of clinical and molecular characteristics in bilateral primary breast cancer

Cao

et al. 2023

Cancer Medicine

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BackgroundBilateral primary breast cancer (BPBC) is a rare type of breast cancer. Studies on the clinicopathologic and molecular characteristics of BPBC in a metastatic context are very limited.MethodsA total of 574 unselected metastatic breast cancer patients with clinical information were enrolled in our next‐generation sequencing (NGS) database. Patients with BPBC from our NGS database were regarded as the study cohort. In addition, 1467 patients with BPBC and 2874 patients with unilateral breast cancer (UBC) from the Surveillance, Epidemiology, and End Results (SEER) public database were also analyzed to determine the characteristics of BPBC.ResultsAmong the 574 patients enrolled in our NGS database, 20 (3.5%) patients had bilateral disease, comprising 15 (75%) patients with synchronous bilateral disease and 5 (25%) patients with metachronous bilateral disease. Eight patients had bilateral hormone receptor‐positive (HR+)/human epidermal growth factor receptor‐negative (HER2−) tumors, and three had unilateral HR+/HER2− tumors. More HR+/HER2− tumors and lobular components were found in BPBC patients than in UBC patients. The molecular subtype of the metastatic lesions in three patients was inconsistent with either side of the primary lesions, which suggested the importance of rebiopsy. Strong correlations in clinicopathologic features between the left and right tumors in BPBC were exhibited in the SEER database. In our NGS database, only one BPBC patient was found with a pathogenic germline mutation in BRCA2. The top mutated somatic genes in BPBC patients were similar to those in UBC patients, including TP53 (58.8% in BPBC and 60.6% in UBC) and PI3KCA (47.1% in BPBC and 35.9% in UBC).ConclusionsOur study suggested that BPBC may tend to be lobular carcinoma and have the HR+/HER2− subtype. Although our study did not find specific germline and somatic mutations in BPBC, more research is needed for verification.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 93%

A study of clinical and molecular characteristics in bilateral primary breast cancer

Cao

et al. 2023

Cancer Medicine

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“…Several major molecular subtypes in BRCA are defined by the presence or absence of hormone receptors (estrogen receptors (ER) or progesterone receptors (PR) and human epidermal growth factor receptor 2 (HER2) ( 2 ). Over the decades, molecular classification exerts a critical role in predicting tumor behavior and guiding therapeutic strategies ( 3 ). Nearly 75% of BRCA patients express hormone receptors, which results in the potent effects of endocrine therapy ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

Comprehensive analysis of the expression and prognosis for RAI2: A promising biomarker in breast cancer

Jiao

Gong

et al. 2023

Front. Oncol.

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IntroductionRetinoic acid-induced 2 (RAI2) was initially related to cell differentiation and induced by retinoic acid. RAI2 has been identified as an emerging tumor suppressor in breast cancer and colorectal cancer.MethodsIn this study, we performed systematic analyses of RAI2 in breast cancer. Meta-analysis and Kaplan-Meier survival curves were applied to identify the survival prediction potential of RAI2. Moreover, the association between RAI2 expression and the abundance of six tumor-infiltrating immune cells was investigated by TIMER, including B cells, CD8+ T cells, CD4+ T cells, B cells, dendritic cells, neutrophils, and macrophages. The expression profiles of high and low RAI2 mRNA levels in GSE7390 were compared to identify differentially expressed genes (DEGs) and the biological function of these DEGs was analyzed by R software, which was further proved in GSE7390.ResultsOur results showed that the normal tissues had more RAI2 expression than breast cancer tissues. Patients with high RAI2 expression were related to a favorable prognosis and more immune infiltrates. A total of 209 DEGs and 182 DEGs were identified between the expression profiles of high and low RAI2 mRNA levels in the GSE7390 and GSE21653 databases, respectively. Furthermore, Gene Ontology (GO) enrichment indicated that these DEGs from two datasets were both mainly distributed in “biological processes” (BP), including “organelle fission” and “nuclear division”. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways analysis demonstrated that these DEGs from two datasets were both significantly enriched in the “cell cycle”. Common hub genes between the DEGs in GSE7390 and GSE21653 were negatively associated with RAI2 expression, including CCNA2, MAD2L1, MELK, CDC20, and CCNB2.DiscussionsThese results above suggested that RAI2 might play a pivotal role in preventing the initiation and progression of breast cancer. The present study may contribute to understanding the molecular mechanisms of RAI2 and enriching biomarkers to predict patient prognosis in breast cancer.

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“…The risk of CBC after the first diagnosis ranges from 0.7 to 1.8% per year (Peralta et al 2000) and is two-to sixfold higher than the risk of developing a first primary breast cancer for women in the general population (Chen et al 1999). This estimate approaches 3% in BRCA1/2 germline mutation carriers (Imyanitov and Kuligina 2020). CBC can be categorized as synchronous or metachronous based on the time window between the first and secondary breast cancer development (Imyanitov and Kuligina 2020).…”

Section: Introductionmentioning

confidence: 99%

“…This estimate approaches 3% in BRCA1/2 germline mutation carriers (Imyanitov and Kuligina 2020). CBC can be categorized as synchronous or metachronous based on the time window between the first and secondary breast cancer development (Imyanitov and Kuligina 2020). There are no uniform clinical criteria that allow discriminating between bilateral CBC (bilCBC) and metastatic cancer spread to CBC (metCBC).…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers

Girolimetti

Marchio

Leo

et al. 2020

J Cancer Res Clin Oncol

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Purpose In daily practice, a contralateral breast cancer (CBC) is usually considered as a new independent tumor despite the indications of several studies showing that the second neoplasia may be a metastatic spread of the primary tumor. Recognition of clonal masses in the context of multiple synchronous or metachronous tumors is crucial for correct prognosis, therapeutic choice, and patient management. Mitochondrial DNA (mtDNA) sequencing shows high informative potential in the diagnosis of synchronous neoplasms, based on the fact that somatic mtDNA mutations are non-recurrent events, whereas tumors sharing them have a common origin. We here applied this technique to reveal clonality of the CBC with respect to the first tumor. Methods We analyzed 30 sample pairs of primary breast cancers and synchronous or metachronous CBCs with detailed clinical information available and compared standard clinico-pathological criteria with mtDNA sequencing to reveal the metastatic nature of CBCs. Results MtDNA analysis was informative in 23% of the cases, for which it confirmed a clonal origin of the second tumor. In addition, it allowed to solve two ambiguous cases where histopathological criteria had failed to be conclusive and to suggest a clonal origin for two additional cases that had been classified as independent by pathologists. Conclusion Overall, the mtDNA-based classification showed a more accurate predictive power than standard histopathology in identifying cases of metastatic rather than bilateral breast cancers in our cohort, suggesting that mtDNA sequencing may be a more precise and easy-to-use method to be introduced in daily routine to support and improve histopathological diagnoses.

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Systemic investigations into the molecular features of bilateral breast cancer for diagnostic purposes

Cited by 6 publications

References 56 publications

A study of clinical and molecular characteristics in bilateral primary breast cancer

A study of clinical and molecular characteristics in bilateral primary breast cancer

Comprehensive analysis of the expression and prognosis for RAI2: A promising biomarker in breast cancer

Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers

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