Perspectives of Integrative Cancer Genomics in Next Generation Sequencing Era

Kwon, So Mee; Cho, Hyunwoo; Choi, Ji Hye; Jee, Byul A; Jo, Yuna; Woo, Hyun Goo

doi:10.5808/gi.2012.10.2.69

Cited by 16 publications

(14 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The study was approved by the hospital Ethics Committee, and written informed consent was obtained from all participants. The inclusion and exclusion criteria were those described in a study by Kwon et al (2012).…”

Section: Subjectsmentioning

confidence: 99%

Relationship between CYP17 gene polymorphisms and risk of prostate cancer

Song¹,

Zh²,

Xy³

et al. 2016

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Cytochrome P450 17a-hydroxylase (CYP17) plays a critical role in androgen biosynthesis. Polymorphisms of the CYP17 promoter have been proposed as risk factors for prostate cancer; however, some studies have produced inconclusive or controversial results. We investigated the relationship between polymorphisms of the CYP17 gene and the risk of prostate cancer. A total of 176 patients with prostate cancer were enrolled in the study, and 168 healthy individuals acted as the control group. The participants were divided into those <71 years old and those ≥71 years old. Restriction fragment length polymorphism-polymerase chain reaction was used to confirm the genotype of CYP17 in the samples. The prostate-specific antigen (PSA) concentrations were also measured in all subjects. When T/C and C/C were compared with T/T, the ORs were 0.478 (P = 0.489) and 0.814 (P = 0.367), respectively. There was no significant difference in PSA concentration among the three genotypes in the <71 group, whereas there were statistically significant differences in the ≥71 group (P = 0.003 and 0.012, respectively). There was no significant difference in free PSA and total PSA levels between the three groups and the control group. The T/C and C/C genotypes were not associated with the risk of prostate cancer, and there were no significant differences between them. In the ≥71 group, the T/C and C/C genotypes were closely associated with prostate cancer, which suggests that the CYP17 gene might be a risk factor for prostate cancer in males of advanced age.

show abstract

Section: Subjectsmentioning

confidence: 99%

Relationship between CYP17 gene polymorphisms and risk of prostate cancer

Song¹,

Zh²,

Xy³

et al. 2016

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…4 Yet, extensive translational research is needed to validate promising biomarkers and demonstrate clinical and comparative effectiveness. [6][7][8] Such research will identify results of variable clinical significance and may also be used to generate information about inherited health risks. [9][10][11][12] Further, in the research context and in the early stages of translation to clinical care, these results will be generated in patients with late-stage disease, where the value of hope is enhanced and patients face complex decisions about the pursuit of small but risky benefits.…”

Section: Introductionmentioning

confidence: 99%

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

et al. 2013

View full text Add to dashboard Cite

Developments in genomics, including next-generation sequencing technologies, are expected to enable a more personalized approach to clinical care, with improved risk stratification and treatment selection. In oncology, personalized medicine is particularly advanced and increasingly used to identify oncogenic variants in tumor tissue that predict responsiveness to specific drugs. Yet, the translational research needed to validate these technologies will be conducted in patients with late-stage cancer and is expected to produce results of variable clinical significance and incidentally identify genetic risks. To explore the experiential context in which much of personalized cancer care will be developed and evaluated, we conducted a qualitative interview study alongside a pilot feasibility study of targeted DNA sequencing of metastatic tumor biopsies in adult patients with advanced solid malignancies. We recruited 29/73 patients and 14/17 physicians; transcripts from semi-structured interviews were analyzed for thematic patterns using an interpretive descriptive approach. Patient hopes of benefit from research participation were enhanced by the promise of novel and targeted treatment but challenged by non-findings or by limited access to relevant trials. Family obligations informed a willingness to receive genetic information, which was perceived as burdensome given disease stage or as inconsequential given faced challenges. Physicians were optimistic about long-term potential but conservative about immediate benefits and mindful of elevated patient expectations; consent and counseling processes were expected to mitigate challenges from incidental findings. These findings suggest the need for information and decision tools to support physicians in communicating realistic prospects of benefit, and for cautious approaches to the generation of incidental genetic information.

show abstract

“…Recently, the technical advances of genome study developed explosively so that it could provide more comprehensive information on cancer genomics, especially for gene expression, sequence variations, copy number changes, and epigenetic changes [62]. Using such technology such as next generation sequencing and big data, rapid progress has been realized in many parts of cancer molecular biology, which in turn contributes to the development of early diagnosis tools and/or targeted molecular therapies.…”

Section: Resultsmentioning

confidence: 99%

Recent Progress of Genome Study for Anaplastic Thyroid Cancer

2013

View full text Add to dashboard Cite

Anaplastic thyroid cancer (ATC) belongs to the most malignant and rapidly progressive human thyroid cancers and its prognosis is very poor. Also, it shows high resistance to cancer treatments, so that effective treatment for ATC has not been found to date, and virtually all patients terminate their life rapidly after diagnosis. Although targeted treatment of genetic alterations has emerged as an extremely promising approach to human cancers, such as BRAF in metastatic melanoma, it remains unclear that how commonly genomic alterations are influenced in ATC tumorigenesis. In recent years, genome wide approaches have been exploited to find genetic alterations associated with complex diseases, including cancer. Here, we reviewed the comprehensive genetic alterations in ATC and recent approaches in the context of identifying genomic alterations associated with ATC. Since surprisingly few reports have been published on the genome wide study of ATC, this review puts emphasis on the urgent needs of genomic research for the prevention and treatment of ATC.

show abstract

Perspectives of Integrative Cancer Genomics in Next Generation Sequencing Era

Cited by 16 publications

References 47 publications

Relationship between CYP17 gene polymorphisms and risk of prostate cancer

Relationship between CYP17 gene polymorphisms and risk of prostate cancer

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

Recent Progress of Genome Study for Anaplastic Thyroid Cancer

Contact Info

Product

Resources

About