Germline whole genome sequencing in adults with multiple primary tumors

Article Genetics & Heredity

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

Qiliang Ding et al.

Summary: This study introduces SCIP, a software package that enables efficient and accurate clinical interpretation of CNVs, facilitating improved genetic diagnoses.

HUMAN GENETICS (2023)

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Article Genetics & Heredity

Genome screening, reporting, and genetic counseling for healthy populations

Selina Casalino et al.

Summary: Rapid advancements in genome sequencing technology have improved our understanding of the relationship between genes and human disease. This study collected blood samples from COVID-19 patients and performed genome sequencing to analyze the data. The researchers developed a comprehensive report that includes information on disease risks, genetic variants, and ancestry. They emphasize the importance of genetic counseling and offer counseling and referrals for clinically significant findings.

HUMAN GENETICS (2023)

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Article Oncology

Cancer carrier screening in the general population using whole-genome sequencing

Ya-Sian Chang et al.

Summary: This study conducted whole-genome sequencing to explore germline mutations in cancer-related genes and found a high incidence of familial cancer in the Taiwanese population. The study also proposed a subgrouping method to study the relevance of a gene or variant to cancer.

CANCER MEDICINE (2023)

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Article Oncology

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Brittany L. Bychkovsky et al.

Summary: Among 9714 patients with MPCs, 13.6% had PVs. The prevalence of PVs increased with the number of primary cancers, with patients under 50 years old with 2 PCs having a higher prevalence of PVs compared to those over 50. PVs were also more prevalent among patients diagnosed with MPCs at a younger age.

CANCER (2022)

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Article Oncology

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

Jamie Trotman et al.

Summary: This article presents the experience of the East of England Genomic Medicine Centre in conducting centralized WGS for children with cancer during the 100 K project, reporting its feasibility and clinical utility. The study found that WGS provided additional clinical value in the diagnosis of pediatric cancer, but also highlighted the need for local expertise in scrutinizing and clinically interpreting variant calls derived from centralized analysis.

BRITISH JOURNAL OF CANCER (2022)

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Review Genetics & Heredity

Clinical whole-genome sequencing in cancer diagnosis

Ying-Chen C. Hou et al.

Summary: Characterizing the genomic landscape of cancers has revolutionized the understanding of cancer biology and led to therapeutic advances and improved patient outcomes. However, the application of next-generation sequencing in the clinical laboratory has been limited until recent technological innovations and reductions in sequencing costs made tumor whole-genome sequencing as a practical clinical assay.

HUMAN MUTATION (2022)

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Article Oncology

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

C. Loveday et al.

Summary: This study is the largest case-control whole-exome analysis of breast cancer to date. While there may be additional breast cancer susceptibility genes, genes of high penetrance are likely to have very low mutational frequency.

ANNALS OF ONCOLOGY (2022)

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Article Oncology

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'

Karin P. S. Langenberg et al.

Summary: iTHER is a Dutch precision oncology program that aims to define tumor molecular profiles in children and adolescents with high-risk pediatric tumors. Through comprehensive molecular profiling, the program identifies somatic alterations and germline pathogenic variants, which provide valuable diagnostic, prognostic, and targetable information. The program has led to the revision or refinement of diagnosis in some patients and highlights the importance of sequential analyses to capture temporal heterogeneity. However, the application of targeted therapies is limited by factors such as poor performance status and limited access to drugs within clinical trials. Overall, iTHER demonstrates the feasibility and importance of comprehensive molecular profiling in pediatric cancers.

EUROPEAN JOURNAL OF CANCER (2022)

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Article Gastroenterology & Hepatology

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Iris B. A. W. Te Paske et al.

GASTROENTEROLOGY (2022)

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Editorial Material Medicine, General & Internal

Genome sequencing as a diagnostic test

Gregory Costain et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2021)

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Article Biochemistry & Molecular Biology

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

Rabea Wagener et al.

Summary: This study identified a portion of pediatric cancer patients carrying pathogenic germline variants through trio whole-exome sequencing, accounting for 13.8% of the cases. Clinical screening also revealed suspicions of underlying cancer predisposition syndrome in some patients, but only a small number were confirmed to have pathogenic variants.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

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Article Health Care Sciences & Services

Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing

Clemence T. B. Pasmans et al.

Summary: This study calculated and compared the total cost of current diagnostic techniques and WGS in the treatment of NSCLC, melanoma, CRC, and GIST in the Netherlands. The results showed that operational costs accounted for over 90% of the total cost per technique, with variations ranging from euro 58 to euro 2925 per cancer patient. Detailed cost differences and value comparisons between these diagnostic techniques enable future economic evaluations to support decision-making.

EXPERT REVIEW OF PHARMACOECONOMICS & OUTCOMES RESEARCH (2021)

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Article Biotechnology & Applied Microbiology

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

Wenming Xiao et al.

Summary: This study systematically investigates factors affecting detection reproducibility and accuracy of somatic mutations in paired tumor-normal cell lines at six different centers. It evaluates the reproducibility of whole-genome sequencing (WGS) and whole-exome sequencing (WES) for different sample types, input amounts, tumor purity, and library construction protocols with nine bioinformatics pipelines. The study found that read coverage and callers affected both WGS and WES reproducibility, with WES performance also affected by insert fragment size, genomic copy content, and the global imbalance score.

NATURE BIOTECHNOLOGY (2021)

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Article Genetics & Heredity