Cancer Predisposition Syndromes

Weinstein, Joanna; Ayyanar, Kanyalakshmi; Watral, Melody

doi:10.1007/b109924_15

Cited by 3 publications

(1 citation statement)

References 150 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Currently, traditional sequencing remains the basis to discover cancer predisposition in the patient's germline [ 20,21] and has also been used to determine polymorphisms associated with anticancer drug resistance and toxicity [22][23][24]. Moreover, in routine oncology practice, assessments that predict the efficacy of drugs already in the market or at various stages of clinical development are based on DNA sequence determination [25][26][27].…”

Section: Traditional Sequencingmentioning

confidence: 99%

Cancer Targeted Therapy Strategy: The Pathologist’s Perspectives

Alessandrini

Perin

Kadare

et al. 2018

CCDT

View full text Add to dashboard Cite

The effectiveness of new personalized treatment procedures in oncology is based on the fact that certain tumors exhibit specific molecular features. More in detail, neoplastic tissues of patients should display a specific biomarker, most often a specific genetic alteration and/or under/overexpression of a definite protein, that could be the target of its respective drug. Immunohistochemical and molecular analyses, which usually include examination of nucleic acids from either tissues or fluids, are common tests to define the status of a tumor. This review focuses on the pathologist's role in carefully controlling pre- analytic procedures and standard operating procedures that are a crucial prerequisite to reach reliable and reproducible results. Six paradigmatic applications of targeted therapy, for which pathological diagnosis plays a fundamental role, are summarized. Traditional and next-generation sequencing are also addressed from the pathologist's perspective as well as the importance pathologists have in this shift to more accurate definition of disease risk and prognostication of therapy response in the personalized medicine era.

show abstract

Section: Traditional Sequencingmentioning

confidence: 99%

Cancer Targeted Therapy Strategy: The Pathologist’s Perspectives

Alessandrini

Perin

Kadare

et al. 2018

CCDT

View full text Add to dashboard Cite

show abstract

Whole Cancer Genome Sequencing by Next-Generation Methods

Ross

Cronin

2011

American Journal of Clinical Pathology

149

View full text Add to dashboard Cite

Traditional approaches to sequence analysis are widely used to guide therapy for patients with lung and colorectal cancer and for patients with melanoma, sarcomas (eg, gastrointestinal stromal tumor), and subtypes of leukemia and lymphoma. The next-generation sequencing (NGS) approach holds a number of potential advantages over traditional methods, including the ability to fully sequence large numbers of genes (hundreds to thousands) in a single test and simultaneously detect deletions, insertions, copy number alterations, translocations, and exome-wide base substitutions (including known "hot-spot mutations") in all known cancer-related genes. Adoption of clinical NGS testing will place significant demands on laboratory infrastructure and will require extensive computational expertise and a deep knowledge of cancer medicine and biology to generate truly useful "clinically actionable" reports. It is anticipated that continuing advances in NGS technology will lower the overall cost, speed the turnaround time, increase the breadth of genome sequencing, detect epigenetic markers and other important genomic parameters, and become applicable to smaller and smaller specimens, including circulating tumor cells and circulating free DNA in plasma.

show abstract

Comprehensive next-generation cancer genome sequencing in the era of targeted therapy and personalized oncology

Cronin¹,

Ross

2011

Biomarkers Med.

View full text Add to dashboard Cite

DNA sequence analysis has become a significant laboratory test in oncology, permitting treatment to become increasingly personalized for both solid tumors and hematologic malignancies. Traditional approaches to sequence analysis, including Sanger sequencing, pyrosequencing and allele-specific PCR, are now widely used to guide therapy for patients diagnosed with lung and colorectal cancer as well as for melanoma, sarcomas (e.g., gastrointestinal stromal tumors) and subtypes of leukemia and lymphoma. Traditional sequence analysis has been limited in bandwidth and throughput and as a result, has been focused exclusively on testing the most common aberrations in key genes or fully sequencing single genes. The massively parallel or next-generation sequencing (NGS) approach to DNA analysis holds a number of potential advantages over the traditional methods, including the ability to fully sequence large numbers of genes (hundreds to thousands) in a single test. Furthermore, NGS can simultaneously detect deletions, insertions, copy number alterations, translocations and exome-wide base substitutions (including known hot-spot mutations) in all known cancer-related genes. However, significant challenges, particularly with respect to demands on expertise and infrastructure, will have to be overcome to translate NGS to the bedside of the cancer patient. Extensive computational expertise is required to bring NGS into clinical context, and a deep knowledge of cancer medicine and cancer biology will be required to generate truly useful, so-called 'clinically actionable' reports for clinicians. While NGS is on the cusp of being launched as a clinical test, it may be expected that the near future will continue to bring major advances in the technology that will lower the overall cost, speed up the turnaround time, increase the breadth of genome sequencing, and detect epigenetic markers and other important genomic parameters, while becoming applicable to smaller and smaller specimens, including circulating tumor cells and circulating free DNA in plasma.

show abstract

Cancer Predisposition Syndromes

Cited by 3 publications

References 150 publications

Cancer Targeted Therapy Strategy: The Pathologist’s Perspectives

Cancer Targeted Therapy Strategy: The Pathologist’s Perspectives

Whole Cancer Genome Sequencing by Next-Generation Methods

Comprehensive next-generation cancer genome sequencing in the era of targeted therapy and personalized oncology

Contact Info

Product

Resources

About