scholarly journals The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

2020 ◽  
Vol 10 (4) ◽  
pp. 237
Author(s):  
Ana Rita Simões ◽  
Ceres Fernández-Rozadilla ◽  
Olalla Maroñas ◽  
Ángel Carracedo
Keyword(s):  
Colorectal Cancer ◽  
Survival Rates ◽  
Novel Technologies ◽  
Genome Wide Analysis ◽  
The Road ◽  
Genome Wide ◽  
Life Threatening ◽  
Generation Sequencing ◽  
Individualised Treatment

In recent decades, survival rates in colorectal cancer have improved greatly due to pharmacological treatment. However, many patients end up developing adverse drug reactions that can be severe or even life threatening, and that affect their quality of life. These remain a limitation, as they may force dose reduction or treatment discontinuation, diminishing treatment efficacy. From candidate gene approaches to genome-wide analysis, pharmacogenomic knowledge has advanced greatly, yet there is still huge and unexploited potential in the use of novel technologies such as next-generation sequencing strategies. This review summarises the road of colorectal cancer pharmacogenomics so far, presents considerations and directions to be taken for further works and discusses the path towards implementation into clinical practice.

scholarly journals Common Familial Colorectal Cancer Linked to Chromosome 7q31: A Genome-Wide Analysis

2008 ◽  
Vol 68 (21) ◽  
pp. 8993-8997 ◽  
Author(s):  
Deborah W. Neklason ◽  
Richard A. Kerber ◽  
David B. Nilson ◽  
Hoda Anton-Culver ◽  
Ann G. Schwartz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Colorectal Cancer ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome

scholarly journals Current Treatments of Metastatic Colorectal Cancer with Immune Checkpoint Inhibitors—2020 Update

2020 ◽  
Vol 9 (11) ◽  
pp. 3520
Author(s):  
Gerhard Jung ◽  
Daniel Benítez-Ribas ◽  
Ariadna Sánchez ◽  
Francesc Balaguer
Keyword(s):  
Colorectal Cancer ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Survival Rates ◽  
Clinical Trial Design ◽  
Predictive Biomarkers ◽  
Host Immune System ◽  
Systemic Treatments

During the last 20 years, chemotherapy has improved survival rates of colorectal cancer (CRC). However, the majority of metastatic cases do not respond to or progress after first line conventional chemotherapy and contribute to the fatalities of patients with CRC. Insights into the immune contexture of the tumor microenvironment (TME) have enabled the development of new systemic treatments that boost the host immune system against the tumor—the immune checkpoint inhibitors (ICI). These promising drugs have already shown astonishing efficacies in other cancer types and have raised new hope for the treatment of metastatic CRC (mCRC). In this review, we will summarize the results of the clinical trials that led to their accelerated approval by the U.S. Food and Drug Administration (FDA) in 2017, as well as all relevant recent studies conducted since then—some of which are not published yet. We will focus on therapeutic efficacy, but also discuss the available data for drug safety and security, changes in quality of life indicators and predictive biomarkers for treatment response. The burgeoning evidence for a potential use of ICIs in other settings than mCRC will also be mentioned. For each trial, we have made a preliminary assessment of the quality of clinical trial design and of the “European Society of Medical Oncology (ESMO) magnitude of clinical benefit” (ESMO-MCBS) in order to provide the first evidence-based recommendation to the reader.

scholarly journals Genome-wide analysis of Chongqing native intersexual goats using next-generation sequencing

3 Biotech ◽  
2019 ◽  
Vol 9 (3) ◽  
Author(s):  
Guang-Xin E ◽  
Mei-Lan Jin ◽  
Yong-Ju Zhao ◽  
Xiang-Long Li ◽  
Lan-Hui Li ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
Generation Sequencing

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE: Neuroendocrine surveillance and management of neurosurgical patients

2017 ◽  
Vol 176 (5) ◽  
pp. R217-R233 ◽  
Author(s):  
Aoife Garrahy ◽  
Mark Sherlock ◽  
Christopher J Thompson
Keyword(s):  
Quality Of Life ◽  
Time Course ◽  
Dynamic Testing ◽  
Hormone Replacement ◽  
Survival Rates ◽  
Cranial Irradiation ◽  
Pituitary Dysfunction ◽  
Neurosurgical Patients ◽  
Life Threatening

Advances in the management of traumatic brain injury, subarachnoid haemorrhage and intracranial tumours have led to improved survival rates and an increased focus on quality of life of survivors. Endocrine sequelae of the acute brain insult and subsequent neurosurgery, peri-operative fluid administration and/or cranial irradiation are now well described. Unrecognised acute hypopituitarism, particularly ACTH/cortisol deficiency and diabetes insipidus, can be life threatening. Although hypopituitarism may be transient, up to 30% of survivors of TBI have chronic hypopituitarism, which can diminish quality of life and hamper rehabilitation. Patients who survive SAH may also develop hypopituitarism, though it is less common than after TBI. The growth hormone axis is most frequently affected. There is also accumulating evidence that survivors of intracranial malignancy, who have required cranial irradiation, may develop hypopituitarism. The time course of the development of hormone deficits is varied, and predictors of pituitary dysfunction are unreliable. Furthermore, diagnosis of GH and ACTH deficiency require dynamic testing that can be resource intensive. Thus the surveillance and management of neuroendocrine dysfunction in neurosurgical patients poses significant logistic challenges to endocrine services. However, diagnosis and management of pituitary dysfunction can be rewarding. Appropriate hormone replacement can improve quality of life, prevent complications such as muscle atrophy, infection and osteoporosis and improve engagement with physiotherapy and rehabilitation.

scholarly journals Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 410
Author(s):  
Ozlem Okutman ◽  
Julien Tarabeux ◽  
Jean Muller ◽  
Stéphane Viville
Keyword(s):  
Diagnostic Yield ◽  
Evaluation Study ◽  
Copy Number Variations ◽  
Gene Panel ◽  
Genome Wide Analysis ◽  
Custom Design ◽  
Genome Wide ◽  
Human Genes ◽  
Positive Controls

Infertility is a global healthcare problem, which affects men and women equally. With the advance of genome-wide analysis, an increasing list of human genes involved in infertility is now available. In order to evaluate the diagnostic interest to analyze these genes, we have designed a gene panel allowing the analysis of 51 genes involved in non-syndromic human infertility. In this initial evaluation study, a cohort of 94 non-syndromic infertility cases with a well-defined infertility phenotype was examined. Five patients with previously known mutations were used as positive controls. With a mean coverage of 457×, and 99.8% of target bases successfully sequenced with a depth coverage over 30×, we prove the robustness and the quality of our panel. In total, we identified pathogenic or likely pathogenic variations in eight patients (five male and three female). With a diagnostic yield of 8.5% and the identification of a variety of variants including substitution, insertion, deletion, and copy number variations, our results demonstrate the usefulness of such a strategy, as well as the efficiency and the quality of this diagnostic gene panel.

Genome-wide analysis of long noncoding RNA signature in human colorectal cancer

Gene ◽  
2015 ◽  
Vol 556 (2) ◽  
pp. 227-234 ◽  
Author(s):  
Yao Xue ◽  
Gaoxiang Ma ◽  
Dongying Gu ◽  
Lingjun Zhu ◽  
Qiuhan Hua ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Long Noncoding Rna ◽  
Noncoding Rna ◽  
Human Colorectal Cancer ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
Rna Signature
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