Clinical validation of genetic variants associated with <i>in vitro</i> chemotherapy-related lymphoblastoid cell toxicity

Fasching, Peter A.; Häberle, Lothar; Rack, Brigitte; Li, Liang; Hein, Alexander; Ekici, Arif B.; Reis, André; Lux, Michael P.; Cunningham, Julie M.; Ruebner, Matthias; Jenkins, Gergory; Fridley, Brooke L.; Schneeweiß, Andreas; Tesch, Hans; Lichtenegger, W.; Fehm, Tanja; Heinrich, Georg; Rezai, Mahdi; Beckmann, Matthias W.; Janni, Wolfgang; Weinshilboum, Richard M.; Wang, Liewei

doi:10.18632/oncotarget.17726

Cited by 6 publications

(3 citation statements)

References 46 publications

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“…The existing data is a plentiful resource to investigate further questions related to breast cancer with regard to therapy efficacy, prognosis, pathway analyses and gene environment interactions. The influence of common genetic variants on therapy efficacy and prognosis has previously been shown in several breast cancer studies 43 – 49 . Data from large international consortia additionally contribute to these questions 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 .…”

Section: Genetic Variants Of Low Penetrancementioning

confidence: 80%

Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data

Wunderle

Olmes

Nabieva

et al. 2018

Geburtshilfe Frauenheilkd

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Over the last two decades genetic testing for mutations in BRCA1 and BRCA2 has become standard of care for women and men who are at familial risk for breast or ovarian cancer. Currently, genetic testing more often also includes so-called panel genes, which are assumed to be moderate-risk genes for breast cancer. Recently, new large-scale studies provided more information about the risk estimation of those genes. The utilization of information on panel genes with regard to their association with the individual breast cancer risk might become part of future clinical practice. Furthermore, large efforts have been made to understand the influence of common genetic variants with a low impact on breast cancer risk. For this purpose, almost 450 000 individuals have been genotyped for almost 500 000 genetic variants in the OncoArray project. Based on first results it can be assumed that – together with previously identified common variants – more than 170 breast cancer risk single nucleotide polymorphisms can explain up to 18% of familial breast cancer risk. The knowledge about genetic and non-genetic risk factors and its implementation in clinical practice could especially be of use for individualized prevention. This includes an individualized risk prediction as well as the individualized selection of screening methods regarding imaging and possible lifestyle interventions. The aim of this review is to summarize the most recent developments in this area and to provide an overview on breast cancer risk genes, risk prediction models and their utilization for the individual patient.

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Section: Genetic Variants Of Low Penetrancementioning

confidence: 80%

Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data

Wunderle

Olmes

Nabieva

et al. 2018

Geburtshilfe Frauenheilkd

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“…Increasing attention is also being paid to germline mutations of patients with breast cancer. A prognostic or predictive significance has been established for some genetic variants 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 . There is relatively detailed data on the prognostic importance of BRCA1 and BRCA2 mutations for certain groups of patients.…”

Section: Prognostic and Predictive Factorsmentioning

confidence: 99%

“…Keimbahnmutationen von Patientinnen mit Mammakarzinom werden zunehmend beachtet. Für einige genetischen Varianten konnte eine prognostische oder prädiktive Bedeutung nachgewiesen werden 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 . In einigen Patientinnengruppen gibt es bereits relativ detailliertes Wissen über die Bedeutung von BRCA1/2-Mutationen für die Prognose.…”

Section: Keimbahnmutationen Als Prognostische Und Prädiktive Markerunclassified

Update Breast Cancer 2018 (Part 1) – Primary Breast Cancer and Biomarkers

Taran

Schneeweiß

Lux

et al. 2018

Geburtshilfe Frauenheilkd

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This summary provides an overview of how new therapies or new aspects of established therapies relate to the latest findings. Neoadjuvant therapy, local therapy, new aspects of systemic therapy, and prognostic and predictive factors are presented. In the neoadjuvant setting, the association between pathological complete response (pCR) and prognosis is still of interest as is the identification of new molecular predictors for new therapies such as CDK4/6 inhibitors. As regards surgical treatment, the target is still to reduce the aggressiveness of surgery. To achieve this, a better understanding particularly of ductal carcinoma in situ is required. With regard to systemic therapy, more data on the best combinations and therapy sequences for existing therapies is available. Finally, the use of prognostic and predictive factors may help to avoid overtreatment and ensure that patients only receive therapies which have been shown to be effective for their specific condition and have fewer side effects.

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