Characterization of molecular scores and gene expression
signatures in primary breast cancer, local recurrences and
brain metastases

J 2019

Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases

EDUARDO, Mariana Bustamante, Vlad POPOVICI, Sara IMBODEN, Stefan AEBI, Nadja BALLABIO et. al.

Basic information

Original name

Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases

Authors

EDUARDO, Mariana Bustamante (756 Switzerland), Vlad POPOVICI (642 Romania, guarantor, belonging to the institution), Sara IMBODEN (756 Switzerland), Stefan AEBI (756 Switzerland), Nadja BALLABIO (756 Switzerland), Hans Jorg ALTERMATT (756 Switzerland), Andreas GUNTHERT (756 Switzerland) and Rolf JAGGI (756 Switzerland)

Edition

BMC Cancer, London, BioMed Central, 2019, 1471-2407

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Full Text

Impact factor

Impact factor: 3.150

RIV identification code

RIV/00216224:14310/19:00110435

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1186/s12885-019-5752-8

UT WoS

000470702000003

Keywords in English

Breast cancer; Molecular risk scores; Local recurrence; Brain metastasis; PAM50 subtypes; Gene expression measurement; Immunohistochemistry; RNA isolation and processing; Hierarchical clustering

Abstract

V originále

BackgroundBreast cancer is a leading cause of cancer-related death in women worldwide. Despite extensive studies in all areas of basic, clinical and applied research, accurate prognosis remains elusive, thus leading to overtreatment of many patients. Diagnosis could be improved by introducing multigene molecular scores in standard clinical practice. Several tests that work with formalin-fixed tissue have become routine. Molecular scores usually include several genes representing processes, response to oestrogens, progestogens and human epidermal growth factor receptor 2 (Her2), respectively, which are combined additively in single values. These multi-gene scores have the advantage of being more robust and reproducible than single-gene scores. Their utility may be further enhanced by combining them with classical diagnostic parameters. Here, we present an exploratory study comparing the RISK and research versions of Oncotype DX recurrence score (RS), Prosigna Risk of Recurrence (ROR) and EndoPredict (EP) with respect to their prognostic potential for ipsilateral recurrence and/or distant relapse in brain, and we compared the scores to the intrinsic subtypes based on PAM50.MethodsRNA was extracted from formalin-fixed, paraffin-embedded (FFPE) tissue cores of primary tumours, local recurrences and brain metastases. Gene expression was measured on a NanoString nCounter Analysis System. Intrinsic subtypes and molecular scores were computed according to published literature and RISK, RS, ROR and EP were compared against each other and to the intrinsic subtypes Luminal A (lumA), Luminal B (lumB), Her2-enriched (Her2), Basal-like (basal), and Normal-like (normal) of PAM50. Local recurrences and brain metastases were compared to their corresponding primary tumours.ResultsAll four molecular scores were highly correlated. Highest correlations were observed among genes related to proliferation while lower correlations were found among oestrogen-related genes. The scores were significantly higher in primary tumours progressing to brain metastases as compared to recurrence-free primary tumours and primary tumours that relapsed as local recurrences.ConclusionsRISK and ROR-P are prognostic for primary tumours metastasizing to the brain. All four scores, RISK, RS, EP and ROR-P failed to discriminate between primary tumours that remained recurrence-free and primary tumours relapsing as local recurrences.

Links

EF16_013/0001761, research and development project

Name: RECETOX RI

LM2015051, research and development project

Name: Centrum pro výzkum toxických látek v prostředí (Acronym: RECETOX RI)

Investor: Ministry of Education, Youth and Sports of the CR

Citovat

EDUARDO, Mariana Bustamante, Vlad POPOVICI, Sara IMBODEN, Stefan AEBI, Nadja BALLABIO, Hans Jorg ALTERMATT, Andreas GUNTHERT and Rolf JAGGI. Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases. BMC Cancer. London: BioMed Central, 2019, vol. 19, June, p. 1-14. ISSN 1471-2407. Available from: https://dx.doi.org/10.1186/s12885-019-5752-8.

@article{1549658,
   author = {Eduardo, Mariana Bustamante and Popovici, Vlad and Imboden, Sara and Aebi, Stefan and Ballabio, Nadja and Altermatt, Hans Jorg and Gunthert, Andreas and Jaggi, Rolf},
   article_location = {London},
   article_number = {June},
   doi = {http://dx.doi.org/10.1186/s12885-019-5752-8},
   keywords = {Breast cancer; Molecular risk scores; Local recurrence; Brain metastasis; PAM50 subtypes; Gene expression measurement; Immunohistochemistry; RNA isolation and processing; Hierarchical clustering},
   language = {eng},
   issn = {1471-2407},
   journal = {BMC Cancer},
   title = {Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases},
   url = {https://bmccancer.biomedcentral.com/articles/10.1186/s12885-019-5752-8},
   volume = {19},
   year = {2019}
}

TY  - JOUR
ID  - 1549658
AU  - Eduardo, Mariana Bustamante - Popovici, Vlad - Imboden, Sara - Aebi, Stefan - Ballabio, Nadja - Altermatt, Hans Jorg - Gunthert, Andreas - Jaggi, Rolf
PY  - 2019
TI  - Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases
JF  - BMC Cancer
VL  - 19
IS  - June
SP  - 1-14
EP  - 1-14
PB  - BioMed Central
SN  - 14712407
KW  - Breast cancer
KW  - Molecular risk scores
KW  - Local recurrence
KW  - Brain metastasis
KW  - PAM50 subtypes
KW  - Gene expression measurement
KW  - Immunohistochemistry
KW  - RNA isolation and processing
KW  - Hierarchical clustering
UR  - https://bmccancer.biomedcentral.com/articles/10.1186/s12885-019-5752-8
L2  - https://bmccancer.biomedcentral.com/articles/10.1186/s12885-019-5752-8
N2  - BackgroundBreast cancer is a leading cause of cancer-related death in women worldwide. Despite extensive studies in all areas of basic, clinical and applied research, accurate prognosis remains elusive, thus leading to overtreatment of many patients. Diagnosis could be improved by introducing multigene molecular scores in standard clinical practice. Several tests that work with formalin-fixed tissue have become routine. Molecular scores usually include several genes representing processes, response to oestrogens, progestogens and human epidermal growth factor receptor 2 (Her2), respectively, which are combined additively in single values. These multi-gene scores have the advantage of being more robust and reproducible than single-gene scores. Their utility may be further enhanced by combining them with classical diagnostic parameters. Here, we present an exploratory study comparing the RISK and research versions of Oncotype DX recurrence score (RS), Prosigna Risk of Recurrence (ROR) and EndoPredict (EP) with respect to their prognostic potential for ipsilateral recurrence and/or distant relapse in brain, and we compared the scores to the intrinsic subtypes based on PAM50.MethodsRNA was extracted from formalin-fixed, paraffin-embedded (FFPE) tissue cores of primary tumours, local recurrences and brain metastases. Gene expression was measured on a NanoString nCounter Analysis System. Intrinsic subtypes and molecular scores were computed according to published literature and RISK, RS, ROR and EP were compared against each other and to the intrinsic subtypes Luminal A (lumA), Luminal B (lumB), Her2-enriched (Her2), Basal-like (basal), and Normal-like (normal) of PAM50. Local recurrences and brain metastases were compared to their corresponding primary tumours.ResultsAll four molecular scores were highly correlated. Highest correlations were observed among genes related to proliferation while lower correlations were found among oestrogen-related genes. The scores were significantly higher in primary tumours progressing to brain metastases as compared to recurrence-free primary tumours and primary tumours that relapsed as local recurrences.ConclusionsRISK and ROR-P are prognostic for primary tumours metastasizing to the brain. All four scores, RISK, RS, EP and ROR-P failed to discriminate between primary tumours that remained recurrence-free and primary tumours relapsing as local recurrences.
ER  -

EDUARDO, Mariana Bustamante, Vlad POPOVICI, Sara IMBODEN, Stefan AEBI, Nadja BALLABIO, Hans Jorg ALTERMATT, Andreas GUNTHERT and Rolf JAGGI. Characterization of molecular scores and gene expression signatures in primary breast cancer, local recurrences and brain metastases. \textit{BMC Cancer}. London: BioMed Central, 2019, vol.~19, June, p.~1-14. ISSN~1471-2407. Available from: https://dx.doi.org/10.1186/s12885-019-5752-8.

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