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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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52 hot topic(s) found with the query "Skin cancer"

Deep learning models across the range of skin disease.
Kaushik P Venkatesh et al. NPJ Digit Med 2024 2 (1) 32 (Posted: Feb 13, 2024 9AM)

From the abstract: "We explore the evolving landscape of diagnostic artificial intelligence (AI) in dermatology, particularly focusing on deep learning models for a wide array of skin diseases beyond skin cancer. We critically analyze the current state of AI in dermatology, its potential in enhancing diagnostic accuracy, and the challenges it faces in terms of bias, applicability, and therapeutic recommendations. "

AI-based skin cancer detection: the balance between access and overutilization
KP Venkatesh et al, NPJ Digital Medicine, August 15, 2023 (Posted: Aug 15, 2023 0PM)

A recent study evaluated the healthcare implications and costs of an AI-enabled mobile health app for skin cancer detection, involving 18,960 beneficiaries of a Netherlands insurer. They report a 32% increase in claims for premalignant and malignant skin lesions among app users, largely attributed to benign skin lesions and leading to higher annual costs for app users (€64.97) compared to controls (€43.09). Cost-effectiveness analysis showed a comparable cost to dermatologist-based diagnosis alone. This editorial emphasizes the balance in AI-based dermatology between increased access and increased false positives resulting in overutilization.

Somatic mutations in facial skin from countries of contrasting skin cancer risk.
Charlotte King et al. Nat Genet 2023 8 (Posted: Aug 04, 2023 10AM)

The incidence of keratinocyte cancer (basal cell and squamous cell carcinomas of the skin) is 17-fold lower in Singapore than the UK, despite Singapore receiving 2–3 times more ultraviolet (UV) radiation. Aging skin contains somatic mutant clones from which such cancers develop. We hypothesized that differences in keratinocyte cancer incidence may be reflected in the normal skin mutational landscape. Here we show that, compared to Singapore, aging facial skin from populations in the UK has a fourfold greater mutational burden, a predominant UV mutational signature, increased copy number aberrations and increased mutant TP53 selection.

Squamous-Cell Carcinoma of the Skin
A Wysong, NEJM, June 21, 2023 (Posted: Jun 22, 2023 9AM)

Genetic factors play a role in the development of cutaneous squamous-cell carcinoma. Inherited phenotypic characteristics — such as light skin, red or blonde hair, and light-colored eyes — are associated with an increased risk of cutaneous squamous-cell carcinoma. A family history of cutaneous squamous-cell carcinoma is associated with a risk that is two to four times that in persons without a family history. Inherited disorders such as xeroderma pigmentosum also increase the risk of cutaneous squamous-cell carcinoma, often with an earlier age at onset.

An artificial intelligence based app for skin cancer detection evaluated in a population based setting.
Anna M Smak Gregoor et al. NPJ Digit Med 2023 5 (1) 90 (Posted: May 23, 2023 11AM)

Artificial intelligence (AI) based algorithms for classification of suspicious skin lesions have been implemented in mobile phone apps (mHealth), but their effect on healthcare systems is undocumented. In 2019, a large health insurance company offered 2.2 million adults free access to an mHealth app for skin cancer detection. To study the impact on dermatological healthcare consumption, we conducted a retrospective population-based pragmatic study. We matched 18,960 mHealth-users who completed at least one successful assessment with the app to 56,880 controls.

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.

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.

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.

Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets
EG Dobre et al, JPM. July 2022 (Posted: Jul 14, 2022 7AM)

Droplet digital polymerase chain reaction (ddPCR), a robust method for detecting and quantifying low-abundance nucleic acids, has recently emerged as a powerful technology for skin cancer analysis in tissue and liquid biopsies (LBs). The ddPCR method, being capable of analyzing various biological samples, has proved to be efficient in studying variations in gene sequences, including copy number variations (CNVs) and point mutations, DNA methylation, circulatory miRNome, and transcriptome dynamics. Moreover, ddPCR can be designed as a dynamic platform for individualized cancer detection and monitoring therapy efficacy.

Emerging precision diagnostics in advanced cutaneous squamous cell carcinoma
G Geidel et al, NPJ Genomic Medicine, March 23, 2022 (Posted: Mar 25, 2022 7AM)

Advanced cutaneous squamous cell carcinoma (cSCC) encompasses unresectable and metastatic disease. Although immune checkpoint inhibition has been approved for this entity recently, a considerable proportion of cases is associated with significant morbidity and mortality. Clinical, histopathological, and radiological criteria are used for current diagnostics, classification, and therapeutic decision-making. This article highlights new insights into the mutational profile of cSCC, summarizes current diagnostic and therapeutic standards, and discusses emerging diagnostic approaches with emphasis on liquid biopsy and tumor tissue-based analyses.

Prevalence of UV Mutational Signatures Among Cutaneous Primary Tumors
DA Mata et al, JAMA Network Open, March 23, 2022 (Posted: Mar 24, 2022 8AM)

This retrospective cross-sectional study of 343?589 patients with solid tumors represents the largest pan-cancer genomic survey of UV mutational signatures conducted to our knowledge. Among 73?944 tumors suitable for mutational signature analysis, identification of a UV signature served as a useful biomarker for identifying cancers of potential cutaneous origin with important implications for clinical management.

Trends in Use of Next-Generation Sequencing in Patients With Solid Tumors by Race and Ethnicity After Implementation of the Medicare National Coverage Determination
DM Sheinson et al, JAMA Network Open, December 10, 2021 (Posted: Dec 10, 2021 4PM)

In this cohort study of 92?687 patients with lung, breast, colon, and skin cancer, national coverage decision implementation was associated with a slower rate of increase in next-generation sequencing use for patients with patient assistance programs compared with Medicare beneficiaries. Implementation of the NCD was not associated with narrowing of racial and ethnic disparities among Medicare beneficiaries alone or the overall insured population.

The landscape of driver mutations in cutaneous squamous cell carcinoma
D Chang et al, NPJ Genomic Medicine, July 16, 2021 (Posted: Jul 17, 2021 7AM)

Compared to other cancer subtypes with similar incidences and death tolls, our understanding of the somatic mutations driving cutaneous squamous cell carcinoma is limited. The main challenge is that these tumors have high mutation burdens, primarily a consequence of UV-radiation-induced DNA damage from sunlight, making it difficult to distinguish driver mutations from passenger mutations. We overcame this challenge by performing a meta-analysis of publicly available sequencing data covering 105 tumors from 10 different studies.

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 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.

Can skin cancer diagnosis be transformed by AI?
A Esteva et al, Lancet Digital Health, November 2019 (Posted: Nov 15, 2019 7AM)

Dermatology is a specialty suited for artificial intelligence (AI) research and potential incorporation in clinical practice. AI has the potential to decrease dermatologist workloads, eliminate repetitive and routine tasks, and improve access to dermatological care.

Superior skin cancer classification by the combination of human and artificial intelligence.
Hekler Achim et al. European journal of cancer (Oxford, England : 1990) 2019 Sep 114-121 (Posted: Sep 15, 2019 8AM)

Using 11,444 dermoscopic images, which were divided into five diagnostic categories, novel deep learning techniques were used to train a single network. Then, both 112 dermatologists of 13 German university hospitals and the trained neural convolutional network independently classified a set of 300 biopsy-verified skin lesions into those five classes.

Assessment of Deep Learning Using Nonimaging Information and Sequential Medical Records to Develop a Prediction Model for Nonmelanoma Skin Cancer.
Wang Hsiao-Han et al. JAMA dermatology 2019 Sep (Posted: Sep 05, 2019 8AM)

Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.
Fritsche Lars G et al. PLoS genetics 2019 Jun 15(6) e1008202 (Posted: Jun 19, 2019 9AM)

What Role Does Genetics Play in Skin Cancer Risk? Protecting yourself from UV rays still matters most of all. But your genes can also have an impact.
M Schroder, US News, April 18, 2019 (Posted: Apr 20, 2019 8AM)

Immunotherapy Drugs Slow Skin Cancer That Has Spread to the Brain
D Grady, NY Times, August 22, 2018 (Posted: Aug 23, 2018 8AM)

Skin Cancer Prevention Progress Report
CDC, 2018 Brand (Posted: Jul 06, 2018 10AM)

Sun Safe Selfie
Nearly 5 million people are treated for skin cancer each year in the United States. Skin cancer can be serious, expensive, and sometimes even deadly Brand (Posted: May 01, 2018 0PM)

Summer Sun Safety: Protect Yourself from UV Radiation
Brand (Posted: Jun 29, 2017 1PM)

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)

Translation and adaptation of skin cancer genomic risk education materials for implementation in primary care.
Rodríguez Vivian M et al. Journal of community genetics 2016 Dec (Posted: Dec 14, 2016 0PM)

Skin Cancer—The Importance of Prevention
E Linos et al, JAMA Internal Medicine, July 26,2016 (Posted: Jul 26, 2016 3PM)

Screening for Skin Cancer- US Preventive Services Task Force Recommendation Statement
USPSTF, JAMA, July 26, 2016 (Posted: Jul 26, 2016 3PM)

What Are the Risk Factors for Skin Cancer?
Brand (Posted: Jul 06, 2016 11AM)

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)

'Sunscreen' gene may help protect against skin cancer
Ecancer news, May 19, 2016 (Posted: May 23, 2016 6AM)

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

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
X Bonilla e al, Nature Genetics, March 7, 2016 (Posted: Mar 07, 2016 1PM)

CDC Grand Rounds: Prevention and Control of Skin Cancer
MMWR, December 3, 2015 (Posted: Dec 04, 2015 11AM)

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)

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)

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin.
Martincorena Iñigo et al. Science 2015 May 22. (6237) 880-6 (Posted: May 26, 2015 10AM)

Cancer. Preprocancer.
Brash Douglas E et al. Science 2015 May 22. (6237) 867-8 (Posted: May 26, 2015 10AM)

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

Genetics of Skin Cancer (PDQ®)
from the National Cancer Institute (Posted: Mar 17, 2015 10AM)

Milestones in skin carcinogenesis: the biology of multistage carcinogenesis.
Balmain Allan et al. J. Invest. Dermatol. 2014 (e1) E2-7 (Posted: Mar 17, 2015 10AM)

Genetic basis for clinical response to CTLA-4 blockade in melanoma.
Snyder Alexandra et al. N. Engl. J. Med. 2014 Dec 4. (23) 2189-99 (Posted: Mar 17, 2015 10AM)

Cancer systems biology of TCGA SKCM: efficient detection of genomic drivers in melanoma.
Guan Jian et al. Sci Rep 2015 7857 (Posted: Mar 17, 2015 10AM)

Genetic variants in Hippo pathway genes YAP1, TEAD1 and TEAD4 are associated with melanoma-specific survival.
Yuan Hua et al. Int. J. Cancer 2015 Jan 13. (Posted: Mar 17, 2015 10AM)

CDC Information: Skin Cancer Prevention
Traveling for spring break? Don't forget to pack, protect yourself from the sun, and go! Brand (Posted: Feb 25, 2015 0PM)

Prevention and Control of Skin Cancer
CDC Public Health Grand Rounds Brand (Posted: Feb 25, 2015 0PM)

CDC Information: Skin Cancer Awareness
Brand (Posted: Feb 25, 2015 0PM)

Genetics of Skin Cancer (PDQ®)–Health Professional Version
Brand (Posted: Jan 11, 2014 11AM)

Executive Summary This executive summary reviews the topics covered in this PDQ summary on the genetics of skin cancer, with hyperlinks to detailed sections below that describe the evidence on each topic. ? Inheritance and Risk More than 100 types of tumors are clinically apparent on the skin; many are known to have familial and/or inherited components, either in isolation or as part of a syndrome with other features. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), which are known collectively as nonmelanoma skin cancer, are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk of developing these cancers. Melanoma is less common than nonmelanoma skin cancer, but 5% to 10% of all melanomas arise in multiple-case families and may be inherited in an autosomal dominant fashion. ? Associated Genes and Syndromes Several genes and hereditary syndromes are associated with the development of skin cancer. Basal cell nevus syndrome (BCNS, caused by pathogenic variants in PTCH1 and PTCH2) is associated with an increased risk of BCC, while syndromes such as xeroderma pigmentosum (XP), oculocutaneous albinism, epidermolysis bullosa, and Fanconi anemia are associated with an increased risk of SCC. The major tumor suppressor gene associated with melanoma is CDKN2A; pathogenic variants in CDKN2A have been estimated to account for 35% to 40% of all familial melanomas. Pathogenic variants in many other genes, including CDK4, CDK6, BAP1, and BRCA2, have also been found to be associated with melanoma. Genome-wide searches are showing promise in identifying common, low-penetrance susceptibility alleles for many complex diseases, including melanoma, but the clinical utility of these findings remains uncertain. ? Clinical Management Risk-reducing strategies for individuals with an increased hereditary predisposition to skin cancer are similar to recommendations for the general population, and include sun avoidance, use of sunscreen, use of sun-protective clothing, and avoidance of tanning beds. Chemopreventive agents such as isotretinoin and acitretin have been studied for the treatment of BCCs in patients with BCNS and XP and are associated with a significant decrease in the number of tumors per year. Vismodegib has also shown promise in reducing the per-patient annual rate of new BCCs requiring surgery among patients with BCNS. Isotretinoin has also been shown to reduce SCC incidence among patients with XP. Treatment of hereditary skin cancers is similar to the treatment of sporadic skin cancers. One study in an XP population found therapeutic use of 5-fluorouracil to be efficacious, particularly in the treatment of extensive lesions. In addition to its role as a therapeutic and potential chemopreventive agent, vismodegib is also being studied for potential palliative effects for keratocystic odontogenic tumors in patients with BCNS. ? Psychosocial and Behavioral Issues Most of the psychosocial literature about hereditary skin cancers has focused on patients with familial melanoma. In individuals at risk of familial melanoma, psychosocial factors influence decisions about genetic testing for inherited cancer risk and risk-management strategies. Interest in genetic testing for pathogenic variants in CDKN2A is generally high. Perceived benefits among individuals with a strong family history of melanoma include information about the risk of melanoma for themselves and their children and increased motivation for sun-protective behavior. A number of studies have examined risk-reducing and early-detection behaviors in individuals with a family history of melanoma. Overall, these studies indicate inconsistent adoption and maintenance of these behaviors. Intervention studies have targeted knowledge about melanoma, sun protection, and screening behaviors in family members of melanoma patients, with mixed results. Research is ongoing to better understand and address psychosocial and behavioral issues in high-risk families. Cancer

Skin cancer, non melanoma, childhood
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


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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