Cancer genetics
View article: The Role of Medicine in Cancer with Emerging Trend and Future Perspective
The Role of Medicine in Cancer with Emerging Trend and Future Perspective Open
Cancer remains one of the leading global health challenges, characterized by uncontrolled cellular proliferation, genetic instability, and the potential for metastasis. cancers are broadly classified into carcinomas, sarcomas, leukemias, l…
View article: Data from Cancer Screening Companies Are Rapidly Proliferating: Are They Ready for Business?
Data from Cancer Screening Companies Are Rapidly Proliferating: Are They Ready for Business? Open
Cancer screening has been a major research front for decades. The classical circulating biomarkers for cancer (such as PSA, CEA, CA125, AFP, etc.) are neither sensitive nor specific and are not recommended for population screening. Recentl…
View article: The Role of Medicine in Cancer with Emerging Trend and Future Perspective
The Role of Medicine in Cancer with Emerging Trend and Future Perspective Open
Cancer remains one of the leading global health challenges, characterized by uncontrolled cellular proliferation, genetic instability, and the potential for metastasis. cancers are broadly classified into carcinomas, sarcomas, leukem…
View article: Supplementary Table 1 from Clinicopathologic, Genomic, and Immunophenotypic Landscape of <i>ATM</i> Mutations in Non–Small Cell Lung Cancer
Supplementary Table 1 from Clinicopathologic, Genomic, and Immunophenotypic Landscape of <i>ATM</i> Mutations in Non–Small Cell Lung Cancer Open
Supplementary Table 1. Baseline clinicopathologic features of the 5172 patients with NSCLC which underwent comprehensive tumor genomic profiling at the Dana-Farber Cancer Institute and Memorial Sloan Kettering Cancer Center.
View article: Addressing Ancestral Underrepresentation in Oncobiology: The Need for Sub-Saharan African-Specific In Vitro Models
Addressing Ancestral Underrepresentation in Oncobiology: The Need for Sub-Saharan African-Specific In Vitro Models Open
Cancer is an increasing public health burden, including in Sub-Saharan African (SSA) populations, where cancer incidence is predicted to increase by around 140% between 2022 and 2050. These rates require a better understanding of the epide…
View article: Molecular stratification or clinical necessity? The role of dMMR status in endometrial cancer
Molecular stratification or clinical necessity? The role of dMMR status in endometrial cancer Open
Endometrial cancer (EC) is one of the most common malignant tumors of the female reproductive system. Traditional clinicopathological factors do not always adequately reflect tumor biology, making molecular stratification increasingly impo…
View article: Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary
Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary Open
The increasing integration of genomic medicine into routine medical care brings to light issues of complexity and uncertainty in the interpretation of genetic variation. We describe a fictional case study based on our experiences in the ha…
View article: Correction: Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands
Correction: Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands Open
View article: Precision Oncology: Current Landscape, Emerging Trends, Challenges, and Future Perspectives
Precision Oncology: Current Landscape, Emerging Trends, Challenges, and Future Perspectives Open
Precision oncology is broadly defined as cancer prevention, diagnosis, and treatment specifically tailored to the patient based on his/her genetics and molecular profile. In simple terms, the goal of precision medicine is to deliver the ri…
View article: Genetics and eye health: research advances and implications for primary eyecare
Genetics and eye health: research advances and implications for primary eyecare Open
Ocular genetics research has seen tremendous growth in the last two decades. Understanding the genetic basis of eye diseases helps researchers comprehend their heritability, uncover disease mechanisms, and develop targeted gene therapies. …
View article: Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study
Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study Open
Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interes…
View article: Experimental Cancer Medicine Centre (ECMC) network proposal for a consensus gene panel for pan-cancer sequencing: a Delphi methodology
Experimental Cancer Medicine Centre (ECMC) network proposal for a consensus gene panel for pan-cancer sequencing: a Delphi methodology Open
Background The Experimental Cancer Medicine Centre (ECMC) Network supports UK-wide access to experimental cancer therapies, many of which require specific genomic alterations. This study aimed to develop expert consensus on essential genes…
View article: Profiling the genomic landscape and evolutionary history of polyploid giant cancer cells in undifferentiated pleomorphic sarcomas
Profiling the genomic landscape and evolutionary history of polyploid giant cancer cells in undifferentiated pleomorphic sarcomas Open
View article: EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours
EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours Open
Microsatellite instability (MSI) is the accumulation of insertion and deletion variants (instability) in short tandem repeat DNA sequences (microsatellites). High levels of MSI occur following loss of function of the DNA mismatch repair sy…
View article: Comorbidity of hypertension and lung cancer: interplay of genetics and environment
Comorbidity of hypertension and lung cancer: interplay of genetics and environment Open
View article: How cancer arises: Genetics releases, plasticity creates, genetics stabilizes
How cancer arises: Genetics releases, plasticity creates, genetics stabilizes Open
Cancer is the origin of a novel tissue that attracts resources, spreads beyond boundaries, avoids normal controls, and escapes immunity. How does a novel tissue arise? The puzzle is that two seemingly different processes appear to be the p…
View article: The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative review
The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative review Open
Aboriginal and Torres Strait Islander (hereafter respectfully named Indigenous) Australians are diagnosed with some cancers substantially more frequently than non-Indigenous Australians implying a different risk factor landscape. Additiona…
View article: P059 Familial melanoma germline testing in a specialist dermatology genetics clinic
P059 Familial melanoma germline testing in a specialist dermatology genetics clinic Open
Nearly 15% of melanomas occur in patients with a family history, and a subset of these have a germline mutation in a melanoma-predisposing gene (CDKN2A being the most common). In 2022, a strategy was outlined for embedding genomics in the …
View article: Forward genetics identifies HN1L/JPT2 as a novel carboplatin resistance gene in ovarian cancer
Forward genetics identifies HN1L/JPT2 as a novel carboplatin resistance gene in ovarian cancer Open
View article: Research Progress in Hematological Malignancies: A Molecular Genetics Perspective
Research Progress in Hematological Malignancies: A Molecular Genetics Perspective Open
This Special Issue in Genes presents articles on different types of hematological malignancies of interest to hematologists, oncologists, pathologists, and researchers involved in the care of patients with acute and chronic leukemias, lymp…
View article: Lymphatic malformations revisited: Genetics, clinics and future directions
Lymphatic malformations revisited: Genetics, clinics and future directions Open
The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline r…
View article: Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman: <i>Is it time for universal germline genetic testing?</i>
Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman: <i>Is it time for universal germline genetic testing?</i> Open
A strict application of the NCCN testing criteria in Omani BC patients may lead to underdiagnosis of hereditary BC. Universal testing of all BC patients could be appropriate for Omani individuals with BC, provided that careful consideratio…
View article: Breast cancer risk assessment evaluation of screening tools for genetics referral for women in Taiwan
Breast cancer risk assessment evaluation of screening tools for genetics referral for women in Taiwan Open
Background Risk screening tools recommended by the United States Preventative Services Task Force (USPSTF) are used to screen potential BRCA1/2 pathogenic variant carriers. The purpose of this study was to identify an appropriate breast ca…
View article: Genetics of canine cancer: a guide for the veterinary oncologist
Genetics of canine cancer: a guide for the veterinary oncologist Open
View article: Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster
Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster Open
PURPOSE Identifying patients with hereditary cancer syndromes through genetics referral enhances early detection and reduces healthcare costs. Despite potential benefits, genetics referral rates globally, including Singapore, remain low. T…
View article: Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling
Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling Open
View article: Using human genetics to understand the epidemiological association between neuroticism and lung cancer
Using human genetics to understand the epidemiological association between neuroticism and lung cancer Open
This study reveals a genetic link between neuroticism and LC, offering new insights into LC risk assessment and potential prevention strategies for individuals with high neuroticism levels.
View article: Understanding the reasons for declining to participate in cancer genetics and genomic studies in the USA: a scoping review protocol
Understanding the reasons for declining to participate in cancer genetics and genomic studies in the USA: a scoping review protocol Open
Introduction Cancer is the second leading cause of death in the USA. Cancer genetics and genomic studies have improved our understanding of risk, onset and progression. However, disparities by race and ethnicity have resulted in a lack of …
View article: Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer Open
View article: Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes
Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes Open