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Cancer Genetics Dec 2018Despite all the advances in diagnosis and treatment of breast cancer, a large number of patients suffer from late diagnosis or recurrence of their disease. Current... (Review)
Review
Despite all the advances in diagnosis and treatment of breast cancer, a large number of patients suffer from late diagnosis or recurrence of their disease. Current available imaging modalities do not reveal micrometastasis and tumor biopsy is an invasive method to detect early stage or recurrent cancer, signifying the need for an inexpensive, non-invasive diagnostic modality. Cell-free tumor DNA (ctDNA) has been tried for early detection and targeted therapy of breast cancer, but its diagnostic and prognostic utility is still under investigation. This review summarizes the existing evidence on the use of ctDNA specifically in breast cancer, including detection methods, diagnostic accuracy, role in genetics and epigenetics evaluation of the tumor, and comparison with other biomarkers. Current evidence suggests that increasing levels of ctDNA in breast cancer can be of significant diagnostic value for early detection of breast cancer although the sensitivity and specificity of the methods is still suboptimal. Additionally, ctDNA allows for characterizing the tumor in a non-invasive way and monitor the response to therapy, although discordance of ctDNA results with direct biopsy (i.e. due to tumor heterogeneity) is still considered a notable limitation.
Topics: Breast Neoplasms; DNA, Neoplasm; Disease Progression; Female; Humans; Limit of Detection; Prognosis
PubMed: 29572011
DOI: 10.1016/j.cancergen.2018.02.002 -
The Journal of Surgical Research Nov 2018The management of intraductal papillomas (IDPs) diagnosed on core needle biopsy (CNB) remains controversial regarding whether excision is required. We evaluated whether...
BACKGROUND
The management of intraductal papillomas (IDPs) diagnosed on core needle biopsy (CNB) remains controversial regarding whether excision is required. We evaluated whether excision of IDPs might be overtreatment based on a consecutive patient population where all IDPs were routinely excised.
MATERIALS AND METHODS
We retrospectively reviewed the records of consecutive patients treated with excision of IDPs at our institution from 2009 to 2016. We evaluated the rate of upgrade of IDPs on CNB and factors predicting for malignant upgrade.
RESULTS
Of 153 CNB specimens, 136 (88.9%) were IDPs without atypia and 14 (9.2%) showed atypia. The overall upgrade rate on final pathology was 7.3% with 1.3% for invasive cancer, 2.7% for ductal carcinoma in situ, and 3.3% for atypical ductal hyperplasia. Of the 14 patients with atypia on CNB, two of these patients (14.2%) were found to have ductal carcinoma in situ. In the absence of atypia on CNB, upgrade rates were 1.5% for invasive and 1.5% for in situ carcinoma. Personal history of breast cancer and magnetic resonance imaging-guided biopsy predicted for malignant upgrade.
CONCLUSIONS
IDPs on CNB have a low chance of harboring an occult malignancy. Given the low probability of upgrade to invasive breast cancer, it is reasonable to consider watchful surveillance in the absence of a prior personal history of breast cancer or atypia on CNB.
Topics: Adult; Aged; Biopsy, Large-Core Needle; Breast Neoplasms; Female; Follow-Up Studies; Humans; Middle Aged; Neoplasm Grading; Papilloma, Intraductal; Retrospective Studies; Unnecessary Procedures; Watchful Waiting
PubMed: 30278958
DOI: 10.1016/j.jss.2018.06.008 -
Molecular Genetics & Genomic Medicine Jul 2021Different genetic variants in hormone-regulating pathways have been identified to influence the risk of breast cancer. This study aimed to evaluate the association...
BACKGROUND
Different genetic variants in hormone-regulating pathways have been identified to influence the risk of breast cancer. This study aimed to evaluate the association of CYP19A1 rs10046 and rs700519 polymorphisms with the risk, clinicopathological factors and prognosis of breast cancer.
METHODS
In a case-control study, rs10046 and rs700519 polymorphisms were genotyped using ARMS-PCR and high-resolution melting (HRM), respectively, in a total of 702 females. Statistical analysis and evaluation of haplotypes and linkage disequilibrium were performed using SPSS v16, PHASE and 2LD.
RESULTS
Although no association of rs700519 with breast cancer was observed, rs10046 in different genetic models as well as C-C/C-T and C-C/C-C diplotypes, revealed the association with the risk of breast cancer (p < 0.05). Moreover, the rs700519-C allele was shown to be associated with longer overall survival. In contrast, the T-T haplotype conferred s a shorter overall survival. rs700519-C allele was also significantly associated with menarche age.
CONCLUSION
Based on the identified independent association between CYP19A1 diplotypes and rs700519-C allele with the risk and prognosis of the disease, the gene region and its genetic variants may have a diagnostic and prognostic role in breast cancer development. Further confirmation using other variants in this locus can validate these findings.
Topics: Adult; Aromatase; Biomarkers, Tumor; Breast Neoplasms; Female; Haplotypes; Humans; Middle Aged; Polymorphism, Single Nucleotide; Survival Analysis
PubMed: 34014013
DOI: 10.1002/mgg3.1705 -
Epidemiologia E Prevenzione 2009
Topics: Breast Neoplasms; Early Diagnosis; Female; Humans; Mammography; Mass Screening; Population Surveillance; Prevalence; Sicily
PubMed: 19621562
DOI: No ID Found -
Journal of the National Cancer Institute Aug 2014Breast cancer is a heterogeneous disease, divisible into a variable number of clinical subtypes. A fundamental question is how many etiological classes underlie the... (Review)
Review
Breast cancer is a heterogeneous disease, divisible into a variable number of clinical subtypes. A fundamental question is how many etiological classes underlie the clinical spectrum of breast cancer? An etiological subtype reflects a grouping with a common set of causes, whereas a clinical subtype represents a grouping with similar prognosis and/or prediction. Herein, we review the evidence for breast cancer etiological heterogeneity. We then evaluate the etiological evidence with mRNA profiling data. A bimodal age distribution at diagnosis with peak frequencies near ages 50 and 70 years is a fundamental characteristic of breast cancer for important tumor features, clinical characteristics, risk factor profiles, and molecular subtypes. The bimodal peak frequencies at diagnosis divide breast cancer overall into a "mixture" of two main components in varying proportions in different cancer populations. The first breast cancer tends to arise early in life with modal age-at-diagnosis near 50 years and generally behaves aggressively. The second breast cancer occurs later in life with modal age near 70 years and usually portends a more indolent clinical course. These epidemiological and molecular data are consistent with a two-component mixture model and compatible with a hierarchal view of breast cancers arising from two main cell types of origin. Notwithstanding the potential added value of more detailed categorizations for personalized breast cancer treatment, we suggest that the development of better criteria to identify the two proposed etiologic classes would advance breast cancer research and prevention.
Topics: Age Distribution; Age Factors; Biomarkers, Tumor; Breast Neoplasms; Evidence-Based Medicine; Female; Gene Expression Profiling; Genetic Predisposition to Disease; Humans; Immunohistochemistry; Incidence; Neoplasm Proteins; Prognosis; RNA, Neoplasm; Risk Factors
PubMed: 25118203
DOI: 10.1093/jnci/dju165 -
Advances in Clinical and Experimental... 2013For many years, the age of the patient, the condition of axillar lymph nodes, the size of the tumour, histological traits (in particular histological grade of malignancy... (Review)
Review
For many years, the age of the patient, the condition of axillar lymph nodes, the size of the tumour, histological traits (in particular histological grade of malignancy and invasion of lymphatic vessels), condition of hormonal receptors and HER2 represented principal factors used for the stratification of breast cancer patients for the purposes of evaluating the prognosis and determining the appropriate strategy of treatment. Although the variables are useful for the prognostic evaluation of individual groups of breast cancer patients, their role in determining the individual risk level of the patient and in the selection of supplementary treatment is quite restricted. This article shows the prognostic value of additional parameters, whose expression is associated with chemioresistance (MRP2, BCRP, YB1) or individual assessment of the dynamics of tumor progression (S100P, BUBR1). In addition, it describes the role of an online database of "The Kaplan-Meier plotter" which contains the assessment of the effects of expression of various genes on the clinical outcome of patients with breast cancer.
Topics: Biomarkers, Tumor; Breast Neoplasms; Cytostatic Agents; Disease Progression; Drug Resistance, Neoplasm; Female; Humans; Prognosis
PubMed: 23468257
DOI: No ID Found -
The British Journal of General Practice... Apr 2022Women with breast pain constitute >20% of breast clinic attendees.
BACKGROUND
Women with breast pain constitute >20% of breast clinic attendees.
AIM
To investigate breast cancer incidence in women presenting with breast pain and establish the health economics of referring women with breast pain to secondary care.
DESIGN AND SETTING
A prospective cohort study of all consecutive women referred to a breast diagnostic clinic over 12 months.
METHOD
Women were categorised by presentation into four distinct clinical groups and cancer incidence investigated.
RESULTS
Of 10 830 women, 1972 (18%) were referred with breast pain, 6708 (62%) with lumps, 480 (4%) with nipple symptoms, 1670 (15%) with 'other' symptoms. Mammography, performed in 1112 women with breast pain, identified cancer in eight (0.7%). Of the 1972 women with breast pain, breast cancer incidence was 0.4% compared with ∼5% in each of the three other clinical groups. Using 'breast lump' as reference, the odds ratio (OR) of women referred with breast pain having breast cancer was 0.05 (95% confidence interval = 0.02 to 0.09, <0.001). Compared with reassurance in primary care, referral was more costly (net cost £262) without additional health benefits (net quality-adjusted life-year [QALY] loss -0.012). The greatest impact on the incremental cost-effectiveness ratio (ICER) was when QALY loss because of referral-associated anxiety was excluded. Primary care reassurance no longer dominated, but the ICER remained greater (£45 528/QALY) than typical UK National Health Service cost-effectiveness thresholds.
CONCLUSION
This study shows that referring women with breast pain to a breast diagnostic clinic is an inefficient use of limited resources. Alternative management pathways could improve capacity and reduce financial burden.
Topics: Breast Neoplasms; Cost-Benefit Analysis; Female; Humans; Mastodynia; Prospective Studies; Quality-Adjusted Life Years; State Medicine
PubMed: 34990395
DOI: 10.3399/BJGP.2021.0475 -
Revista Latino-americana de Enfermagem Aug 2016to identify and synthesize the evidence from randomized clinical trials that tested the effectiveness of traditional Chinese acupuncture in relation to sham acupuncture... (Comparative Study)
Comparative Study Review
OBJECTIVE
to identify and synthesize the evidence from randomized clinical trials that tested the effectiveness of traditional Chinese acupuncture in relation to sham acupuncture for the treatment of hot flashes in menopausal women with breast cancer.
METHOD
systematic review guided by the recommendations of the Cochrane Collaboration. Citations were searched in the following databases: MEDLINE via PubMed, Web of Science, CENTRAL, CINAHL, and LILACS. A combination of the following keywords was used: breast neoplasm, acupuncture, acupuncture therapy, acupuncture points, placebos, sham treatment, hot flashes, hot flushes, menopause, climacteric, and vasomotor symptoms.
RESULTS
a total of 272 studies were identified, five of which were selected and analyzed. Slight superiority of traditional acupuncture compared with sham acupuncture was observed; however, there were no strong statistical associations.
CONCLUSIONS
the evidence gathered was not sufficient to affirm the effectiveness of traditional acupuncture compared with sham acupuncture.
OBJETIVO
identificar e sintetizar as evidências oriundas de ensaios clínicos randomizados que testaram a efetividade da acupuntura tradicional chinesa em relação à sham acupuntura para o tratamento dos fogachos em mulheres com câncer de mama no climatério.
MÉTODO
revisão sistemática guiada pelas recomendações da Colaboração Cochrane. A busca foi realizada nas bases de dados: MEDLINE via PubMed, Web of Science, CENTRAL Cochrane, CINAHL e LILACS. Adotou-se a combinação dos descritores: breast neoplasm, acupuncture, acupuncture therapy, acupuncture points, placebos, sham treatment, hot flashes, hot flushes, menopause, climacteric, vasomotor symptoms.
RESULTADOS
foram identificados 272 estudos, sendo 5 selecionados e analisados. Foi observada discreta superioridade da acupuntura tradicional em relação à sham, entretanto, sem fortes associações estatísticas.
CONCLUSÕES
as evidências obtidas não foram suficientes para afirmar quanto à efetividade da acupuntura tradicional em relação à sham.
OBJETIVO
Identificar y sintetizar la evidencia de un ensayo clínico aleatorizado que examinó la eficacia de la acupuntura tradicional en relación a la acupuntura sham para el tratamiento de sofocos en las mujeres menopáusicas con cáncer de mama.
MÉTODO
Revisión sistemática guiada por las recomendaciones de la Colaboración Cochrane. Las referencias bibliográficas se buscaron en las siguientes bases de datos: MEDLINE vía PubMed, Web of Science, Cochrane Central Register of Controlled Trials (CENTRAL), CINAHL y LILACS. Se utilizó una combinación de las siguientes palabras clave: breast neoplasm, acupuncture, acupuncture therapy, acupuncture points, placebos, sham treatment, hot flashes, hot flushes, menopause, climacteric, vasomotor symptoms.
RESULTADOS
Se identificó un total de 272 estudios, cinco de los cuales fueron seleccionados y analizados. Se encontró una ligera superioridad de la acupuntura tradicional comparada con la acupuntura sham; sin embargo, no se encontraron asociaciones estadísticas fuertes.
CONCLUSIONES
La evidencia obtenida no fue suficiente para confirmar la eficacia de la acupuntura tradicional comparada con la acupuntura sham.
Topics: Acupuncture Therapy; Breast Neoplasms; Female; Hot Flashes; Humans; Medicine, Chinese Traditional; Menopause; Placebos; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 27533271
DOI: 10.1590/1518-8345.0647.2762 -
Biomolecules Oct 2023In 2020, breast cancer became the most diagnosed cancer worldwide. Conventional chemotherapies have major side effects due to their non-specific activities....
In 2020, breast cancer became the most diagnosed cancer worldwide. Conventional chemotherapies have major side effects due to their non-specific activities. Alternatively, short interfering RNA(siRNA)-carrying nanoparticles (NPs) have a high potential to overcome this non-specificity. Lipid-substituted polyethyleneimine (PEI) polymers (lipopolymers) have been reported as efficient non-viral carriers of siRNA. This study aims to engineer novel siRNA/lipopolymer nanocomplexes by incorporating anionic additives to obtain gene silencing through siRNA activity with minimal nonspecific toxicity. We first optimized our polyplexes in GFP+ MDA-MB-231 cells to effectively silence the GFP gene. Inclusion of phosphate buffer with pH 8.0 as complex preparation media and N-Lauroylsarcosine Sodium Salt as additive, achieved ~80% silencing with the least amount of undesired cytotoxicity, which was persistent for at least 6 days. The survivin gene was then selected as a target in MDA-MB-231 cells since there is no strong drug (i.e., small organic molecule) for inhibition of its oncogenic activity. The qRT-PCR, flow cytometry analysis and MTT assay revealed >80% silencing, ~95% cell uptake and >70% cell killing by the same formulation. We conclude that our lipopolymer can be further investigated as a lead non-viral carrier for breast cancer gene therapy.
Topics: Humans; Female; Breast Neoplasms; Cell Line, Tumor; Nanomedicine; RNA, Small Interfering; Gene Silencing; RNA, Double-Stranded
PubMed: 37892241
DOI: 10.3390/biom13101559 -
Pathobiology : Journal of... 2018Breast cancer (BC) displays striking clinical, morphological, and behavioural diversity within a single tumour and between tumours. Currently, mounting evidence... (Review)
Review
Breast cancer (BC) displays striking clinical, morphological, and behavioural diversity within a single tumour and between tumours. Currently, mounting evidence indicates that the morphological heterogeneity of BC reflects an underlying spectrum of genetic and epigenetic portraits that control BC behaviour. Further understanding of BC heterogeneity will have an impact, not only on the routine diagnostic practices but also on patients' management decisions. Phenomena like diagnostic inconsistencies and therapeutic resistance, both primary and acquired, could be attributed, at least in part, to tumour heterogeneity within the same cancer and between the primary disease and subsequent recurrences. From a practical standpoint, and to minimise the impact of BC intratumoral heterogeneity, pragmatic approaches for adequate tumour sampling have been suggested in translational biomarker discovery and validation research studies and in the clinical setting. Here, we provide a brief overview of BC heterogeneity, with an emphasis on the clinical consequences of intratumoral heterogeneity.
Topics: Biomarkers, Tumor; Breast Neoplasms; Disease Progression; Drug Resistance, Neoplasm; Female; Genetic Heterogeneity; Humans; Precision Medicine
PubMed: 29428954
DOI: 10.1159/000477851