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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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135 hot topic(s) found with the query "Melanoma"

Identification of dynamic microbiota signatures in patients with melanoma receiving ICIs: opportunities and challenges.
Saman Maleki Vareki et al. Nat Rev Clin Oncol 2024 3 (Posted: Mar 21, 2024 7AM)

From the abstract: "The composition of the gut microbiota has emerged as a tumour-extrinsic factor that modulates response to immune-checkpoint inhibitors (ICIs), although the lack of consistency in microbiota signatures across studies has limited their value as reliable biomarkers. Herein, we discuss a recent study in which longitudinal microbiome profiling identified several taxa that are persistently enriched in patients with melanoma and a favourable response to ICIs. "

Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.
Todd M Gibson et al. Nat Med 2024 3 (Posted: Mar 12, 2024 0PM)

From the abstract: "Survivors of childhood cancer are at increased risk for subsequent cancers attributable to the late effects of radiotherapy and other treatment exposures; thus, further understanding of the impact of genetic predisposition on risk is needed. Combining genotype data for 11,220 5-year survivors from the Childhood Cancer Survivor Study and the St Jude Lifetime Cohort, we found that cancer-specific polygenic risk scores (PRSs) derived from general population, genome-wide association study, cancer loci identified survivors of European ancestry at increased risk of subsequent basal cell carcinoma (odds ratio per s.d. of the PRS: OR?=?1.37, 95% confidence interval (CI)?=?1.29–1.46), female breast cancer (OR?=?1.42, 95% CI?=?1.27–1.58), thyroid cancer (OR?=?1.48, 95% CI?=?1.31–1.67), squamous cell carcinoma (OR?=?1.20, 95% CI?=?1.00–1.44) and melanoma (OR?=?1.60, 95% CI?=?1.31–1.96) "

Personalized anti-cancer vaccine combining mRNA and immunotherapy tested in melanoma trial.
Thiago Carvalho et al. Nat Med 2023 9 (10) 2379-2380 (Posted: Oct 19, 2023 2PM)

From the article: "An estimated 325,000 new cases of malignant melanoma were diagnosed worldwide in 2020. The clinical deployment of immune checkpoint inhibitors over the past 12 years has revolutionized melanoma treatment, and the 5-year survival rate in the USA now approaches 95%. However, the frequency of melanoma is increasing, particularly in lighter-skinned people, and for the minority of patients diagnosed with metastatic disease, the 5-year survival rate is 35%, although the introduction of immunotherapy has doubled the median survival time for these patients. "

Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia
CK Law et al, Genetics in Medicine, August 30, 2023 (Posted: Aug 31, 2023 7AM)

From the abstract: "Evidence indicates a melanoma prevention program using personalized genomic risk provision and genetic counselling, can impact prevention behaviors, including reducing sunburns in adults with no melanoma history. This analysis evaluated its longer-term cost-effectiveness from an Australian health system perspective. We found that genomic risk provision targeted to high-traditional melanoma risk individuals is likely a cost-effective strategy for reducing sunburns and will likely prevent future melanomas and keratinocyte carcinomas."

Gut Microbiome in Patients With Early-Stage and Late-Stage Melanoma
RG Witt et al, JAMA Dermatology, August 30, 2023 (Posted: Aug 30, 2023 1PM)

From the abstract: "Do patients with melanoma have different fecal microbiota profiles than individuals without melanoma, and does the fecal microbiome differ based on disease stage? In this case-control study of 228 participants, patients with melanoma had a different structure of microbiome, with lower abundance of multiple beneficial commensals, compared with control participants. The gut microbiota of patients with early-stage melanoma was characterized by higher alpha diversity and a distinct microbiome structure compared with those with late-stage melanoma."

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy
HN Vasedevan et al, JAMA Network Open, August 17, 2023 (Posted: Aug 17, 2023 11AM)

What is the translational importance of alteration status in the treatment of melanoma brain metastases? In this cohort study of 94 patients with resected melanoma brain metastases that underwent targeted DNA sequencing, BRAF V600E variant lesions were associated with worse intracranial progression-free survival and overall survival. Single-cell sequencing showed that BRAF V600E variant brain metastases harbored fewer immune cell types; immunotherapy was associated with improved outcomes for patients with BRAF wildtype but not BRAF V600E variant brain metastases.

Prospective validation of dermoscopy-based open-source artificial intelligence for melanoma diagnosis (PROVE-AI study)
M Marchetti et al, NPJ Digital Medicine, July 12, 2023 (Posted: Jul 12, 2023 7AM)

The use of artificial intelligence (AI) has the potential to improve the assessment of lesions suspicious of melanoma, but few clinical studies have been conducted. We validated the accuracy of an open-source, non-commercial AI algorithm for melanoma diagnosis and assessed its potential impact on dermatologist decision-making. We conducted a prospective, observational clinical study to assess the diagnostic accuracy of the AI algorithm (ADAE) in predicting melanoma from dermoscopy skin lesion images.

Precision medicine meets cancer vaccines.
et al. Nat Med 2023 6 (Posted: Jun 22, 2023 7AM)

Vaccines for treating cancer have been in development for decades, but their clinical efficacy has been elusive. Thus far, only one therapeutic vaccine against cancer has been approved by the US Food and Drug Administration for the treatment of prostate cancer, extending patient survival by only 4 months. Now, two independent efforts using mRNA vaccines tailor-made to target each patient’s tumor have reported initial success in melanoma and pancreatic cancer and are energizing the field of anti-cancer vaccines.

Personalizing neoadjuvant immune-checkpoint inhibition in patients with melanoma
MW Lucas et al, Nat Rev Clin Oncol, May 2023 (Posted: May 06, 2023 7AM)

Neoadjuvant immune-checkpoint inhibition is a promising emerging treatment approach for patients with surgically resectable macroscopic stage III melanoma. The neoadjuvant setting provides an ideal platform for personalized therapy owing to the very homogeneous nature of the patient population and the opportunity for pathological response assessments within several weeks of starting treatment, thereby facilitating the efficient identification of novel biomarkers.

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population.
Georgina L Fenton et al. J Genet Couns 2017 12 (2) 370-380 (Posted: May 04, 2023 6AM)

This study aimed to develop an online educational program for using PRS for breast and ovarian cancer risk-assessments and evaluate the impact on genetic healthcare providers’ (GHP) attitudes, confidence, knowledge, and preparedness. The educational program comprised of an online module covering theoretical aspects of PRS, and a facilitated virtual workshop with pre-recorded roleplays and case discussions. Data were collected in pre-and post-education surveys.

Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.
Lamis Yehia et al. JAMA Netw Open (4) e239705 (Posted: Apr 25, 2023 7AM)

What are the lifetime cancer risks in children and adults with germline PTEN variants? In this cohort study of 701 patients with germline PTEN variants (PTEN hamartoma tumor syndrome, PHTS), approximately half had at least 1 cancer diagnosis, with significantly elevated lifetime risks for breast (91%), endometrial (48%), thyroid (33%), kidney (30%), and colorectal cancers (17%), as well as melanoma (5%). Cancer diagnoses were also observed in children and young adults with PHTS (15%) and in patients with PHTS with neurodevelopmental disorders (11%).

Immune Checkpoint Inhibitors - The Need for Innovation.
P Connor Johnson et al. N Engl J Med (16) 1529-1532 (Posted: Apr 20, 2023 11AM)

In the field of oncology, clinical investigations of immune checkpoint inhibitors now predominate. These drugs, delivered as antibody therapies that activate T-lymphocyte–mediated antitumor responses, are the result of seminal studies. Since the immune checkpoint inhibitor ipilimumab was approved for the treatment of melanoma more than a decade ago, regulatory agencies across the world have granted marketing approval for at least 90 additional uses for the more than 11 different versions of these drugs that are available to oncologists.

Personalized vaccine for melanoma may stave off cancer’s return
J Kaiser, Science, April 16, 2023 (Posted: Apr 17, 2023 7AM)

A novel cancer vaccine tailored to genetic changes in a person’s tumor is showing promise in the clinic. In a study of about 150 people who had surgery for melanoma, a type of skin cancer, those given a personalized vaccine along with an immunotherapy drug were more likely to remain free of cancer 18 months later than patients who did not receive the vaccine.

Early Detection and Prognostic Assessment of Cutaneous Melanoma Consensus on Optimal Practice and the Role of Gene Expression Profile Testing
MK Sabet et al, JAMA Dermatology, March 15, 2023 (Posted: Mar 15, 2023 5PM)

What are the recommended methods for early detection and prognostic assessment of cutaneous melanoma? In this consensus statement, via a modified Delphi method, melanoma experts supported a risk-stratified approach to various aspects of melanoma screening as well as the use of visual and dermoscopic examination, the interpretation of reflectance confocal microscopy, and some uses of epidermal tape stripping. They did not, based on available evidence, reach consensus on the role for gene expression profile testing in clinical decision-making.

Public Health and Diagnostic Approaches to Risk Stratification for Melanoma
AC Geller et al, JAMA Dermatology, March 15, 2023 (Posted: Mar 15, 2023 5PM)

Dermatologists and public health experts must remain open to evidence-based new diagnostics that can have a profound effect on practice. However, these important collaborations must be guided by rigorously designed studies and a body of evidence that carefully weighs the benefits and potential harms to patients. In doing so, we must ensure that our education, screening, and incorporation of new diagnostics considers populations and patients who are at greatest risk of fatal melanoma.

Precision oncology for BRAF-mutant cancers with BRAF and MEK inhibitors: from melanoma to tissue-agnostic therapy
MA Gouda et al, ESMO Open, February 24, 2023 (Posted: Feb 26, 2023 8AM)

BRAF alterations lead to unbridled activation of the MAPK pathway which can result in cancer development and progression. BRAF and MEK inhibitors led to paradigm change in management of BRAF-mutated melanoma, lung, and anaplastic thyroid cancers. BRAF plus MEK inhibitor combination has shown clinical activity in >20 different BRAF V600-positive tumor types. Dabrafenib and trametinib has received FDA accelerated approval for metastatic solid tumors with BRAF V600E mutations. The recent tissue-agnostic approval is transformative as it prioritizes mutational status over tissue of origin.

Persistent mutation burden drives sustained anti-tumor immune responses.
Noushin Niknafs et al. Nature medicine 2023 1 (Posted: Jan 27, 2023 7AM)

Tumor mutation burden is an imperfect proxy of tumor foreignness and has therefore failed to consistently demonstrate clinical utility in predicting responses in the context of immunotherapy. We evaluated mutations in regions of the genome that are unlikely to undergo loss in a pan-cancer analysis across 31 tumor types (n?=?9,242) and eight immunotherapy-treated cohorts of patients with non-small-cell lung cancer, melanoma, mesothelioma, and head and neck cancer (n?=?524). We discovered that mutations in single-copy regions and those present in multiple copies per cell constitute a persistent tumor mutation burden (pTMB) which is linked with therapeutic response to immune checkpoint blockade.

Preoperative immune-therapy combination shows promise in skin cancer
Nature Clinical Briefings, October 26, 2022 (Posted: Oct 26, 2022 1PM)

Treatment with the drugs relatlimab and nivolumab before the surgical removal of a type of cancer called melanoma resulted in tumours becoming inviable in 57% of individuals, and no severe adverse effects were observed. People with a favourable treatment response had a better survival outcome than did those who did not respond.

Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis
G Mercado et al, J Per Medicine, October 12, 2022 (Posted: Oct 13, 2022 6AM)

The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We investigated these in a community-based randomized controlled trial that examined the health behavioral impact of receiving personalized melanoma genomic risk information

Communicating Personal Melanoma Polygenic Risk Information: Participants’ Experiences of Genetic Counseling in a Community-Based Study
AK Smit et al, J Per Med, September 26, 2022 (Posted: Sep 26, 2022 7AM)

The survey showed a high level of acceptability for the GC phone call (mean satisfaction score overall: 4.3 out of 5, standard deviation (SD): 0.6) with differences according to gender (mean score for women: 4.4, SD: 0.6 vs. men: 4.2, SD: 0.7; p = 0.005), health literacy (lower literacy: 4.1, SD: 0.8; average: 4.3, SD: 0.6; higher: 4.4, SD: 0.6: p = 0.02) and polygenic risk group (low risk: 4.5, SD: 0.5, SD: average: 4.3, SD: 0.7, high: 4.3, SD: 0.7; p = 0.03). Our findings point to the importance of further exploring educational and support needs and preferences for communicating personalized melanoma risk among population subgroups, including diverse literacy levels.

Diet-driven microbial ecology underpins associations between cancer immunotherapy outcomes and the gut microbiome
RC Simpson et al, Nature Medicine, September 22, 2022 (Posted: Sep 23, 2022 7AM)

The gut microbiota shapes the response to immune checkpoint inhibitors (ICIs) in cancer, however dietary and geographic influences have not been well-studied in prospective trials. To address this, we prospectively profiled baseline gut (fecal) microbiota signatures and dietary patterns of 103 trial patients from Australia and the Netherlands treated with neoadjuvant ICIs for high risk resectable metastatic melanoma and performed an integrated analysis with data from 115 patients with melanoma treated with ICIs in the United States.

Neurofibromatosis Type 1 and Risk of Skin Cancer
J Trinh et al, JAMA Dermatology, August 24, 2022 (Posted: Aug 24, 2022 1PM)

This study found increased odds of melanoma, BCC, and SCC in patients with NF1. Whole-exome sequencing has established NF1 as the third most frequently mutated gene in melanomas.3 About 12% to 18% of melanomas and 45% to 93% of desmoplastic melanomas harbor NF1 alterations.

GPNMB confers risk for Parkinson's disease through interaction with α-synuclein.
Diaz-Ortiz Maria E et al. Science (New York, N.Y.) 2022 8 (6608) eabk0637 (Posted: Aug 19, 2022 11AM)

Genome-wide association studies (GWAS) have uncovered nearly 100 loci that contribute to risk for Parkinson’s disease (PD), which affects an estimated 6 million people worldwide. However, target genes and biological mechanisms associated with these loci remain largely unexplored. Diaz-Ortiz et al. examined a PD GWAS risk locus on chromosome 7, linking it to the transmembrane protein Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB). GPNMB was found to interact with alpha-synuclein (aSyn),

Harnessing the immunotherapeutic potential of CDK4/6 inhibitors in melanoma: is timing everything?
EJ Lelliot et al, NPJ Precision Oncology, April 20, 2022 (Posted: Apr 22, 2022 0PM)

Overall survival for oncology drugs approved for genomic indications
A Haslam et al, EJC, January 2022 (Posted: Dec 23, 2021 10AM)

We found 53 drugs approved for 92 unique indications from 2006 to 2020. We found that 50 drugs (55%) approved for a genomic indication had a randomized study evaluating OS benefit, and of those, only 22 demonstrated an improvement in OS. Similarly, 52 drugs (57%) evaluated PFS benefit, and 51 of these studies demonstrated an improvement in PFS. Drugs approved for BRAF V600 melanoma demonstrated an improvement in OS more often than drugs approved for ALK non–small cell lung cancer. The median improvement in OS was 4.7 months.

Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial
AK Smit et al, Genetics in Medicine, August 12, 2021 (Posted: Aug 13, 2021 8AM)

We evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes. At 12 months, 948 (92%) participants completed dosimetry and 973 (95%) the questionnaire. For the primary outcome, there was no effect of the genomic risk intervention on objectively measured UV exposure at 12 months, irrespective of traditional risk factors.

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia
B Dalmasso et al, Genetics in Medicine, June 14, 2021 (Posted: Jul 14, 2021 7AM)

From 22 sites, we collected 2,104 familial, multiple primary and sporadic melanoma cases who underwent ATM genotyping via panel, exome, or genome sequencing, and compared the allele frequency (AF) of selected ATM variants classified as loss-of-function and variants of uncertain significance (VUS) between this cohort and the gnomAD non-Finnish European (NFE) data set. The results support the role of ATM as a melanoma predisposition gene, with LOF variants suggesting a moderate-risk.

Recent Advances in the Treatment of Melanoma.
Curti Brendan D et al. The New England journal of medicine 2021 6 (23) 2229-2240 (Posted: Jun 10, 2021 7AM)

The frequency of melanoma continues to increase, yet the lethality of advanced disease has decreased in the past 10 years. Insights gained from studies of melanoma have led to a deeper understanding of antitumor immune responses and have established immunotherapy as one of the main approaches to cancer treatment.

Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.
Bakshi Andrew et al. Journal of the National Cancer Institute 2021 4 (Posted: Apr 18, 2021 8AM)

We assessed a PRS for cutaneous melanoma comprising 55 variants in a prospective study of 12,712 individuals in the ASPirin in Reducing Events in the Elderly trial. We evaluated incident melanomas diagnosed during the trial and prevalent melanomas diagnosed pre-enrolment. We found that a genomic risk score is associated with melanoma risk in older individuals, and may contribute to targeted surveillance.

Fecal microbiota transplants help patients with advanced melanoma respond to immunotherapy
NCI, February 4, 2021 Brand (Posted: Feb 05, 2021 7AM)

In a new study, some patients with advanced melanoma who initially did not respond to treatment with an immune checkpoint inhibitor, a type of immunotherapy, did respond to the drug after receiving a transplant of fecal microbiota from a patient who had responded to the drug. The results suggest that introducing certain fecal microorganisms into a patient’s colon may help the patient respond to drugs that enhance the immune system’s ability to recognize and kill tumor cells.

Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.
AlDubayan Saud H et al. JAMA 2020 Nov (19) 1957-1969 (Posted: Nov 18, 2020 8AM)

In this analysis of 2 cohorts of patients with prostate cancer and melanoma, more pathogenic variants in 118 cancer-predisposition genes were found using deep learning technology compared with a standard genetic analysis method (198 vs 182 variants identified in 1072 patients with prostate cancer; 93 vs 74 variants identified in 1295 patients with melanoma). The number of cancer-predisposing pathogenic variants depends partially on the automated approach used.

Seeds of cancer in normal skin
I Martincorina, Nature Medicine, October 7, 2020 (Posted: Oct 08, 2020 8AM)

Sequencing the genomes of individual skin cells called melanocytes has revealed a rich landscape of DNA changes. These insights shed light on the origins of melanoma, an aggressive type of cancer.

Five-Year Analysis of Adjuvant Dabrafenib plus Trametinib in Stage III Melanoma.
Dummer Reinhard et al. The New England journal of medicine 2020 Sep (Posted: Sep 03, 2020 7AM)

In the 5-year follow-up of a phase 3 trial involving patients who had resected stage III melanoma with BRAF V600E or V600K mutations, 12 months of adjuvant therapy with dabrafenib plus trametinib resulted in a longer duration of survival without relapse or distant metastasis than placebo with no apparent long-term toxic effects.

Prognostic Gene Expression Profiling in Cutaneous Melanoma Identifying the Knowledge Gaps and Assessing the Clinical Benefit
D Grossman et al, JAMA Dermatology, July 29, 2020 (Posted: Jul 30, 2020 8AM)

Before gene expression profile testing is routinely used, the clinical benefit to the management of patients with melanoma must be established through further clinical investigation.

Consensus, Controversy, and Conversations About Gene Expression Profiling in Melanoma
WH Chan et al, JAMA Dermatology, July 29, 2020 (Posted: Jul 30, 2020 8AM)

Performance of Gene Expression Profile Tests for Prognosis in Patients With Localized Cutaneous Melanoma A Systematic Review and Meta-analysis
MA Marchetti et al, JAMA Dermatology, July 29, 2020 (Posted: Jul 30, 2020 8AM)

Gene Expression Profile Testing for Thin Melanoma- Evidence to Support Clinical Use Remains Thin
CL Kovarik et al, JAMA Dermatology, April 15, 2020 (Posted: Apr 17, 2020 9AM)

Algorithm based smartphone apps to assess risk of skin cancer in adults: systematic review of diagnostic accuracy studies
K Freeman, et al, BMJ. February 2020 (Posted: Feb 11, 2020 8AM)

Current algorithm based smartphone apps cannot be relied on to detect all cases of melanoma or other skin cancers. Test performance is likely to be poorer than reported here when used in clinically relevant populations and by the intended users of the apps.

Artificial intelligence for melanoma diagnosis: how can we deliver on the promise?
Mar V J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Dec 30(12) e1-e3 (Posted: Feb 05, 2020 8AM)

Artificial intelligence and melanoma detection: friend or foe of dermatologists?
Charalambides Maria et al. British journal of hospital medicine (London, England : 2005) 2020 Jan 81(1) 1-5 (Posted: Feb 05, 2020 8AM)

The public health benefits of melanoma prevention and detection have driven advances in diagnostics for skin cancer, particularly in the field of artificial intelligence. Evaluating the benefits and limitations of artificial intelligence in dermatology is paramount to its future development and clinical application.

Molecular analysis of primary melanoma T cells identifies patients at risk for metastatic recurrence
Nature Cancer, January 20, 2020 (Posted: Jan 21, 2020 9AM)

TCFr is a quantitative molecular assessment that predicts metastatic recurrence in primary melanoma patients whose disease has been resected surgically. The present study suggests that a successful T-cell-mediated, antitumour response can be present in primary melanomas.

Detection of Malignant Melanoma Using Artificial Intelligence: An Observational Study of Diagnostic Accuracy.
Phillips Michael et al. Dermatology practical & conceptual 2020 10(1) e2020011 (Posted: Jan 15, 2020 8AM)

Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma
D Liu et al, Nature Medicine, December 2, 2019 (Posted: Dec 03, 2019 8AM)

Harnessing the Power of Microbes to Fight Cancer
JP Zegerac, Medscape, October 25, 2019 (Posted: Oct 27, 2019 11AM)

A study in patients with melanoma indicate that users of probiotics have one-third the odds of responding to immunotherapy treatment with anti-programmed cell death-1 checkpoint inhibitors compared with patients not taking probiotics. The study found that patients on probiotics have decreased diversity of the microbiome.", a key measure of overall gut health.

Relating the gut metagenome and metatranscriptome to immunotherapy responses in melanoma patients.
Peters Brandilyn A et al. Genome medicine 2019 Oct (1) 61 (Posted: Oct 15, 2019 9AM)

Detecting Circulating Tumor Cells Through the Skin
J Abbasi, JAMA, August 2019 (Posted: Aug 28, 2019 7AM)

Methods of detecting circulating tumor cells in blood are hampered by poor sensitivity, which limits the so-called liquid biopsies’ usefulness for catching low-level CTCs present before metastasis. A new photoacoustic liquid biopsy approach that peers through the skin was more sensitive than existing assays in detecting CTCs in patients with melanoma.

Five-Year Outcomes with Dabrafenib plus Trametinib in Metastatic Melanoma.
Robert Caroline et al. The New England journal of medicine 2019 Aug (7) 626-636 (Posted: Aug 15, 2019 8AM)

First-line treatment with dabrafenib plus trametinib led to long-term benefit in approximately one third of the patients who had unresectable or metastatic melanoma with a BRAF V600E or V600K mutation.

BRIGHT Study Finds Genetic Testing Motivates Behavior Changes in Families at Risk for Melanoma
University of Utah, August 2019 (Posted: Aug 06, 2019 9AM)

The study showed genetic counseling about highly elevated melanoma risk, both with and without test reporting, led to sustained reductions in UVR exposure. The results provide evidence of unique benefit to participants who received genetic testing.

CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later.
Stump Tammy K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug (Posted: Aug 03, 2019 0PM)

This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.

Accuracy of Computer-Aided Diagnosis of Melanoma: A Meta-analysis.
Dick Vincent et al. JAMA dermatology 2019 Jun (Posted: Jun 20, 2019 9AM)

Deep learning outperformed 136 of 157 dermatologists in a head-to-head dermoscopic melanoma image classification task
TJ Brinker et al, Eur J Cancer, May 2019 (Posted: Apr 29, 2019 1PM)

Exploring the Emotional and Behavioural Reactions to Receiving Personalised Melanoma Genomic Risk Information: A Qualitative Study.
Fenton G L et al. The British journal of dermatology 2018 Dec (Posted: Jan 02, 2019 4PM)

Molecular Testing for Cutaneous Melanoma: An Update and Review.
Lee Jonathan J et al. Archives of pathology & laboratory medicine 2018 Oct (Posted: Oct 31, 2018 8AM)

Use of gene expression profile testing as a prognostic tool in early-stage cutaneous melanoma - compelling but not ready for primetime.
Christensen Luisa et al. Melanoma research 2018 Sep (Posted: Sep 19, 2018 9AM)

Immunotherapy for Melanoma Metastatic to the Brain.
Turajlic Samra et al. The New England journal of medicine 2018 Aug (8) 789-790 (Posted: Aug 23, 2018 8AM)

NCI-led research team develops predictor for immunotherapy response in melanoma
NCI, August 20, 2018 Brand (Posted: Aug 20, 2018 2PM)

Science Saturday: Arresting melanoma’s molecular drivers
D Sparks, Mayo Clinic, May 26, 2018 (Posted: May 30, 2018 9AM)

Association Between Circulating Tumor DNA and Pseudoprogression in Patients With Metastatic Melanoma Treated With Anti-Programmed Cell Death 1 Antibodies.
Lee Jenny H et al. JAMA oncology 2018 Feb e175332 (Posted: Feb 11, 2018 9AM)

Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk.
Aspinwall Lisa G et al. Translational behavioral medicine 2018 Jan (1) 29-43 (Posted: Feb 06, 2018 1PM)

Gut bacteria associated with cancer immunotherapy response in melanoma
Science Mag, August 20, 2017 (Posted: Aug 20, 2017 5PM)

Personalized cancer vaccines vanquish melanoma in small but encouraging study
S Begley, StatNews, July 5, 2017 (Posted: Jul 06, 2017 3PM)

Does personalised melanoma genomic risk information trigger conversations about skin cancer prevention and skin examination with family, friends and health professionals?
Smit A K et al. The British journal of dermatology 2017 Jun (Posted: Jun 21, 2017 8AM)

Whole-genome landscapes of major melanoma subtypes
NK Hayward et al, Nature, May 3, 2017 (Posted: May 09, 2017 8AM)

Identification, genetic testing, and management of hereditary melanoma.
Leachman Sancy A et al. Cancer metastasis reviews 2017 Mar (1) 77-90 (Posted: May 08, 2017 9AM)

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
de Unamuno Bustos Blanca et al. Scientific reports 2017 Mar 7(1) 495 (Posted: Apr 05, 2017 11AM)

Cost-Effectiveness of Immune Checkpoint Inhibition in BRAF Wild-Type Advanced Melanoma.
Kohn Christine G et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Feb JCO2016696336 (Posted: Feb 22, 2017 11AM)

Next-generation sequencing in NSCLC and melanoma patients: a cost and budget impact analysis.
van Amerongen Rosa A et al. Ecancermedicalscience 2016 10684 (Posted: Dec 07, 2016 9AM)

A pilot randomised controlled trial of the feasibility, acceptability and impact of giving information on personalised genomic risk of melanoma to the public.
Smit Amelia K et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Oct (Posted: Oct 12, 2016 11AM)

Eye Melanoma, Media Hype, and Genomic Medicine
R Lewis, PLOS Blogs, September 1, 2016 (Posted: Sep 01, 2016 4PM)

Advances in Melanoma Treatment
Genome Magazine, Summer 2016 (Posted: Jul 08, 2016 8AM)

State of the science on prevention and screening to reduce melanoma incidence and mortality: The time is now.
Tripp Mary K et al. CA: a cancer journal for clinicians 2016 May (Posted: Jun 10, 2016 8AM)

Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
Soura Efthymia et al. Journal of the American Academy of Dermatology 2016 Mar (3) 395-407 (Posted: May 23, 2016 6AM)

Familial skin cancer syndromes: Increased melanoma risk.
Ransohoff Katherine J et al. Journal of the American Academy of Dermatology 2016 Mar (3) 423-34 (Posted: May 23, 2016 6AM)

Prediction of Melanoma Risk in a Southern European Population Based on a Weighted Genetic Risk Score.
Kypreou Katerina P et al. The Journal of investigative dermatology 2016 Mar 136(3) 690-5 (Posted: Mar 30, 2016 9AM)

Melanoma Epidemiology and Prevention.
Berwick Marianne et al. Cancer treatment and research 2016 17-49 (Posted: Mar 07, 2016 1PM)

Liquid biopsy utility for the surveillance of cutaneous malignant melanoma patients.
Huang Sharon K et al. Molecular oncology 2016 Mar (3) 450-63 (Posted: Mar 04, 2016 0PM)

Intestinal microbiome analyses identify melanoma patients at risk for checkpoint-blockade-induced colitis
K Dubin et al, Nature Communications, February 2, 2016 (Posted: Feb 02, 2016 0PM)

Genomic Classification of Cutaneous Melanoma.
Cell 2015 Jun (7) 1681-96 (Posted: Jan 04, 2016 10AM)

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma
S Puig et al, Genetics in Medicine, December 17 2015 (Posted: Dec 18, 2015 0PM)

Melanoma Researchers Say Odds Continually Improving for Patients
J Briggs, Mayo clinic Individualizing Medicine Blog, December 15, 2015 (Posted: Dec 15, 2015 7PM)

Future perspectives in melanoma research: meeting report from the "Melanoma Bridge": Napoli, December 3rd-6th 2014.
Ascierto Paolo A et al. Journal of translational medicine 2015 (1) 374 (Posted: Dec 03, 2015 8PM)

Update in genetic susceptibility in melanoma.
Potrony Miriam et al. Annals of translational medicine 2015 Sep (15) 210 (Posted: Dec 03, 2015 8PM)

Improving outcomes in patients with melanoma: strategies to ensure an early diagnosis.
Voss Rachel K et al. Patient related outcome measures 229-242 (Posted: Dec 03, 2015 8PM)

Immune checkpoint inhibitors: therapeutic advances in melanoma.
Márquez-Rodas Ivan et al. Annals of translational medicine 2015 Oct (18) 267 (Posted: Nov 28, 2015 6PM)

FDA approves Cotellic as part of combination treatment for advanced melanoma
FDA, November 10, 2015 (Posted: Nov 19, 2015 4PM)

New Combination of Targeted Therapeutics Approved For Melanoma
K Honey, AACR Blog Post, November 19, 2015 (Posted: Nov 19, 2015 4PM)

Melanoma Genomics and Immunotherapy.
Constantinou Maria et al. Rhode Island medical journal (2013) 2015 (11) 31-4 (Posted: Nov 11, 2015 7PM)

The Genetic Evolution of Melanoma from Precursor Lesions
AH Shain 5et al, NEJM, November 11, 201 (Posted: Nov 11, 2015 7PM)

Telomere length and the risk of cutaneous melanoma and non-melanoma skin cancer: a review of the literature and meta-analysis.
Caini Saverio et al. J. Dermatol. Sci. 2015 Aug 22. (Posted: Sep 20, 2015 0PM)

Genomic correlates of response to CTLA4 blockade in metastatic melanoma.
Van Allen Eliezer M et al. Science 2015 Sep 10. (Posted: Sep 13, 2015 1PM)

Jimmy Carter Says He Has Melanoma That Has Spread To his Brain
Sam Levine, Huffington Post, August 20, 2015 (Posted: Aug 20, 2015 11AM)

Update on melanoma epigenetics.
de Unamuno Blanca et al. Curr Opin Oncol 2015 Sep (5) 420-6 (Posted: Aug 20, 2015 10AM)

Clinical utility of a blood-based BRAF(V600E) mutation assay in melanoma.
Panka David J et al. Mol. Cancer Ther. 2014 Dec 13(12) 3210-8 (Posted: Aug 19, 2015 0PM)

Meta-analysis uncovers five additional susceptibility loci for cutaneous malignant melanoma,
Genome Web, Aug 3 [by free subscription only] (Posted: Aug 04, 2015 2PM)

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
ML Law et al, Nature Genetics, August 3, 2015 (Posted: Aug 04, 2015 8AM)

Precision Oncology: Creating a Genomic Guide for Melanoma Therapy
NIH, Director's Blog, June 23, 2015 Brand (Posted: Jun 23, 2015 0PM)

It's Melanoma and Skin Cancer Awareness Month
From the American Association for Cancer Research (Posted: May 18, 2015 9AM)

Therapeutic Advances and Treatment Options in Metastatic Melanoma
Douglas B. Johnson et al. JAMA Oncology, April 23, 2015 (Posted: Apr 24, 2015 9AM)

Melanoma
Dirk Schadendorf et al. Nature Reviews Disease Primers, April 23, 2015 (Posted: Apr 23, 2015 7AM)

Genome-Wide DNA Methylation Analysis in Melanoma Reveals the Importance of CpG Methylation in MITF Regulation.
Lauss Martin et al. J. Invest. Dermatol. 2015 Feb 23. (Posted: Apr 10, 2015 1PM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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