Article
Biochemistry & Molecular Biology
Ines Zanna, Saverio Caini, Sara Raimondi, Calogero Saieva, Giovanna Masala, Daniela Massi, Emilia Cocorocchio, Paola Queirolo, Ignazio Stanganelli, Sara Gandini
Summary: Germline variants of the MC1R gene do not show significant association with somatic mutations of the BRAF and NRAS genes in cutaneous melanoma patients, but they demonstrate a moderate-to-strong positive association with somatic mutations of the TERT gene promoter.
MOLECULAR CARCINOGENESIS
(2021)
Article
Oncology
Flavia Carolina Pozzobon, Gemma Tell-Marti, Neus Calbet-Llopart, Alicia Barreiro, Natalia Espinosa, Miriam Potrony, Beatriz Alejo, Sebastian Podlipnik, Marc Combalia, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig
Summary: The research reveals that genetic variants associated with low nevus count and melanoma risk are linked to specific dermoscopic features, which are more typical of de novo melanomas and melanomas with a poorer prognosis. Melanomas with red hair color MC1R variants carriers have a lower total dermoscopy score and fewer blotches compared to non-carriers.
PIGMENT CELL & MELANOMA RESEARCH
(2021)
Article
Oncology
Michael R. Sargen, Ruth M. Pfeiffer, David E. Elder, Xiaohong R. Yang, Alisa M. Goldstein, Margaret A. Tucker
Summary: The study evaluated thickness for first primary melanomas diagnosed in melanoma-prone families and found that participation in a longitudinal surveillance program providing skin cancer screening and education about skin self-exams was associated with thinner melanomas for members of melanoma-prone families. The findings support the clinical benefit of screening (physician and self) for this high-risk population.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2021)
Article
Oncology
Elizabeth A. Holland, Serigne Lo, Blake Kelly, Helen Schmid, Anne E. Cust, Jane M. Palmer, Martin Drummond, Nicholas K. Hayward, Antonia L. Pritchard, Graham J. Mann
Summary: A risk prediction model named FRAMe was developed and validated to estimate the likelihood of carrying a heritable CDKN2A mutation in Australian families with increased melanoma risk. Family variables such as age of melanoma diagnosis, number of primary melanomas, and cancer history were independently associated with mutation status. The model had good predictive performance, especially in areas with high melanoma incidence.
Article
Dermatology
C. Longo, V. Barquet, E. Hernandez, A. A. Marghoob, M. Potrony, C. Carrera, P. Aguilera, C. Badenas, J. Malvehy, S. Puig
Summary: The study aimed to analyze the diagnostic accuracy of morphologic and comparative approaches in dermoscopy for melanoma diagnosis in familial melanoma patients with different genetic backgrounds. The comparative approach showed advantages in decreasing the number needed to excise for melanoma diagnosis, but with slightly lower sensitivity compared to the morphologic approach.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Oncology
Evan M. M. Braunstein, Eddie Imada, Sergiu Pasca, Shiyu Wang, Hang Chen, Camille Alba, Dan N. N. Hupalo, Matthew Wilkerson, Clifton L. L. Dalgard, Jack Ghannam, Yujia Liu, Luigi Marchionni, Alison Moliterno, Christopher S. S. Hourigan, Lukasz P. P. Gondek
Summary: Genetic predisposition to myeloproliferative neoplasms (MPNs) is more common than in most other cancers. This study identified an ATM L2307F single nucleotide variant (SNV) occurring in nearly 8% of individuals with familial MPN, suggesting a link between ATM and MPN predisposition. Structural protein modeling of this variant indicated the stabilization of inactive ATM dimer and alteration of downstream tumor suppressor CHEK2 phosphorylation.
Article
Oncology
Romy Mondschein, Damien Bolton, David Clouston, James Dowty, Liam Kavanagh, Declan Murphy, Prudence Scott, Renea A. Taylor, Heather Thorne
Summary: This study identified germline mutations associated with prostate cancer development and their correlation with prostate cancer characteristics. Mutations in ATM and CHEK2 genes were associated with aggressive prostate cancer. Further research is needed to confirm the prevalence and impact of these germline mutations in prostate cancer.
Article
Hematology
Miriam Elbracht, Robert Meyer, Kim Kricheldorf, Deniz Gezer, Thomas Eggermann, Beate Betz, Ingo Kurth, Lino L. Teichmann, Tim H. Bruemmendorf, Ulrich Germing, Susanne Isfort, Steffen Koschmieder
Summary: The study identified germline mutations in MPNs patients, suggesting a higher risk of leukemia; the discovery of hereditary tumor predisposition is crucial for therapeutic options and preventive care for individuals with MPNs in their families.
Article
Oncology
Francesco Spagnolo, Bruna Dalmasso, Enrica Tanda, Miriam Potrony, Susana Puig, Remco van Doorn, Ellen Kapiteijn, Paola Queirolo, Hildur Helgadottir, Paola Ghiorzo
Summary: The study retrospectively collected data of patients with germline CDKN2A pathogenic variants who received targeted therapy for advanced melanoma across four European centers. The results support treatment with targeted therapy in this subset of patients, showing that the clinical activity of BRAF+/-MEK inhibitors in patients with germline CDKN2A pathogenic variants was not inferior to that of clinical trials and real-world studies.
Editorial Material
Dermatology
Hildur Helgadottir
Summary: The linked article is from the Journal of the European Academy of Dermatology and Venereology in 2022, authored by C. Pellegrini et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Dermatology
Maria Pissa, Jan Lapins, Christina Skoldmark, Hildur Helgadottir
Summary: Inherited mutations in the CDKN2A gene are a significant risk factor for cutaneous melanoma. This study found that implementing a dermatologic surveillance program for families with CDKN2A mutations resulted in earlier diagnosis and improved survival rates for melanoma patients.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Medicine, Research & Experimental
Pingping Xu, Danfeng Sun, Yaqi Gao, Yi Jiang, Ming Zhong, Gang Zhao, Jinxian Chen, Zheng Wang, Qiang Liu, Jie Hong, Haoyan Chen, Ying-Xuan Chen, Jing-Yuan Fang
Summary: Through whole-exome sequencing, we identified mutations in genes related to the Fanconi anemia DNA repair pathway in familial colorectal cancer patients, including CHEK2. Further experiments showed that CHEK2 plays a crucial role in cell cycle and DNA damage repair processes.
Review
Oncology
Kristen Pauley, Ambreen Khan, Wendy Kohlmann, Joanne Jeter
Summary: The CDKN2A/p16 gene is responsible for a significant proportion of hereditary melanoma cases and also increases the risk of pancreatic cancer. Behavioral changes, such as wearing sunscreen, can help reduce the risk for individuals with these gene variants. Expert consensus suggests pancreatic cancer surveillance for these individuals, and genetic counseling and testing can influence their behavior changes.
FRONTIERS IN ONCOLOGY
(2022)
Article
Multidisciplinary Sciences
Stephanie U. Greer, Jiamin Chen, Margret H. Ogmundsdottir, Carlos Ayala, Billy T. Lau, Richard Glenn C. Delacruz, Imelda T. Sandoval, Sigrun Kristjansdottir, David A. Jones, Derrick S. Haslem, Robin Romero, Gail Fulde, John M. Bell, Jon G. Jonasson, Eirikur Steingrimsson, Hanlee P. Ji, Lincoln D. Nadauld
Summary: This article investigates the role of autophagy related gene ATG7 in cholangiocarcinoma. The study finds that germline variants and somatic deletions of ATG7 are associated with the development of cholangiocarcinoma, and these variants impact the function of autophagy.
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Owen J. Chen, Ester Castellsague, Mohamed Moustafa-Kamal, Javad Nadaf, Barbara Rivera, Somayyeh Fahiminiya, Yilin Wang, Isabelle Gamache, Caterina Pacifico, Lai Jiang, Jian Carrot-Zhang, Leora Witkowski, Albert M. Berghuis, Stefan Schoenberger, Dominik Schneider, Morten Hillmer, Susanne Bens, Reiner Siebert, Colin J. R. Stewart, Ziguo Zhang, William C. H. Chao, Celia M. T. Greenwood, David Barford, Marc Tischkowitz, Jacek Majewski, William D. Foulkes, Jose G. Teodoro
Summary: Two germline CDC20 missense variants that segregate with cancer in two families compromise the spindle assembly checkpoint and lead to aberrant mitotic progression, which could predispose cells to transformation.
Letter
Dermatology
Luca Stingeni, Leonardo Bianchi, Elettra Antonelli, Elena Sofia Caroppo, Silvia Mariel Ferrucci, Carlotta Gurioli, Michela Ortoncelli, Gabriella Fabbrocini, Eustachio Nettis, Donatella Schena, Maddalena Napolitano, Massimo Gola, Laura Bonzano, MariaTeresa Rossi, Anna Belloni Fortina, Anna Balato, Ketty Peris, Caterina Foti, Fabrizio Guarneri, Marco Romanelli, Cataldo Patruno, Paola Savoia, Maria Esposito, Filomena Russo, Enzo Errichetti, Tommaso Bianchelli, Luca Bianchi, Giovanni Pellacani, Claudio Feliciani, Annamaria Offidani, Monica Corazza, Giuseppe Micali, Nicola Milanesi, Giovanna Malara, Andrea Chiricozzi, Marta Tramontana, Katharina Hansel
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Paola Ghiorzo, William Bruno
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Dermatology
Nunzia Di Cristo, Paola Savoia, Andre Luiz Rossetto, Federica Veronese, Francesca Graziola, Elisa Zavattaro
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Irene Vanni, Lorenza Pastorino, Enrica Teresa Tanda, Virginia Andreotti, Bruna Dalmasso, Nicola Solari, Matteo Mascherini, Francesco Cabiddu, Antonio Guadagno, Simona Coco, Eleonora Allavena, William Bruno, Gabriella Pietra, Michela Croce, Rosaria Gangemi, Michele Piana, Gabriele Zoppoli, Lorenzo Ferrando, Francesco Spagnolo, Paola Queirolo, Paola Ghiorzo
Summary: This study investigates the genetic determinants of therapy resistance in metastatic melanoma through whole-exome sequencing and cfDNA analysis. The results suggest that non-responders have higher copy number variations and mutations in melanoma driver genes in the BRAF V600+ subset. In the BRAF V600- subset, non-responders have twice the Tumor Mutational Burden (TMB) compared to responders. Additionally, the study identifies potential resistance driver gene variants and demonstrates the efficacy of secondary germline testing and cfDNA analysis in detecting germline predisposing variants carriers and monitoring dynamic changes during treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Daria Apostolo, Davide D'Onghia, Stelvio Tonello, Rosalba Minisini, Alessio Baricich, Carla Gramaglia, Filippo Patrucco, Patrizia Zeppegno, Antonio Acquaviva, Piero Emilio Balbo, Luigi Mario Castello, Giuseppe Cappellano, Annalisa Chiocchetti, Chiara Gerevini, Mara Giordano, Fatiha Laaguid, Marcello Manfredi, Davide Raineri, Cristina Rigamonti, Roberta Rolla, Valentina Romano, Marco Confalonieri, Paola Savoia, Elisa Zavattaro, Mario Pirisi, Barbara Ruaro, Pier Paolo Sainaghi, Mattia Bellan
Summary: Post-acute conditions are common after COVID-19, and the underlying mechanisms are not yet fully understood. This study suggests that Gas6 and its soluble receptors, sAxl and sMer, may be implicated in these conditions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Dermatology
Edoardo Cammarata, Astrid Lappi, Claudio Giacomazzi, Lorena Soledad Torre, Paola Savoia, Moreno Dutto
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Oncology
Laura Cristina Gironi, Elia Esposto, Francesca Zottarelli, Roberto Giorgione, Pamela Farinelli, Elisa Zavattaro, Edoardo Cammarata, Nunzia Di Cristo, Paola Ogliara, Lara Camillo, Mara Giordano, Simona Mellone, Barbara Pasini, Alessandro Ambrosi, Paola Savoia
Summary: We investigated the correlation between the occurrence of cutaneous melanoma and noncutaneous tumors in CDKN2A mutation carriers and wild-type melanoma patients. The study found that mutation carriers had a significantly higher number of cutaneous melanoma cases compared to the wild-type patients. Additionally, both groups had a similar rate of diagnosis for malignant NCTs. The onset of cutaneous melanoma generally preceded the occurrence of NCTs, emphasizing the importance of comprehensive surveillance for melanoma patients.
Article
Dermatology
Federica Veronese, Elia Esposto, Chiara Airoldi, Carla Gramaglia, Lucia Bestagini, Elisa Zavattaro, Patrizia Zeppegno, Paola Savoia
Summary: This study is a Randomized Control Trial (RCT) evaluating the effectiveness of an emollient and rehydrating topical product in healthcare workers with hand eczema during the COVID-19 pandemic. The data showed that patients treated with the tested product had greater reductions in clinical and psychological scores compared to those treated with a basic cream. The study also confirmed the connection between dermatological and psychological indicators.
JOURNAL OF DERMATOLOGICAL TREATMENT
(2023)
Review
Oncology
Bruna Dalmasso, Paola Ghiorzo
Summary: Altered metabolism plays a crucial role in the development, progression, and treatment response of pancreatic cancer. Long non-coding RNAs (lncRNAs), which regulate various cellular functions, are frequently dysregulated in pancreatic cancer. Due to their detectability in tissue and plasma and their potential for silencing, interest is growing in using lncRNAs as biomarkers and therapeutic targets.
Review
Microbiology
Paola Savoia, Barbara Azzimonti, Roberta Rolla, Elisa Zavattaro
Summary: The skin and gut host various microorganisms that interact with the immune system and affect immune tolerance and inflammation. Changes in the skin microbiota have been observed in skin diseases, including skin cancer. Modulating the microbiota could be a potential therapeutic option for advanced skin cancers.
Editorial Material
Medicine, General & Internal
Elisa Zavattaro, Federica Veronese, Paola Savoia
FRONTIERS IN MEDICINE
(2023)
Article
Medicine, General & Internal
Federica Veronese, Elia Esposto, Chiara Airoldi, Carla Gramaglia, Patrizia Zeppegno, Elisa Zavattaro, Paola Savoia
Summary: This study aimed to estimate the prevalence of self-reported hand eczema signs and symptoms among healthcare workers in a Northern Italy University Hospital after the third wave of the COVID-19 pandemic. Results showed that 51.1% of respondents self-reported suffering from at least one hand skin lesion. The healthcare group had a higher daily hand washing frequency and a higher prevalence of hand eczema signs compared to the administrative staff.
MEDICINA-LITHUANIA
(2023)
Article
Biochemical Research Methods
Francesca Di Cesare, Matteo Calgaro, Veronica Ghini, Diletta Francesca Squarzanti, Annachiara De Prisco, Annalisa Visciglia, Paola Zanetta, Roberta Rolla, Paola Savoia, Angela Amoruso, Barbara Azzimonti, Nicola Vitulo, Leonardo Tenori, Claudio Luchinat, Marco Pane
Summary: This study investigated the effects of probiotic treatment on the metabolic profiles of human urine and serum using NMR-based metabonomic approach. The results showed significant impacts of probiotics on urinary and serum metabolomes, without altering their phenotypes. The study demonstrated the variations of metabolite levels resulting from different probiotic posologies.
JOURNAL OF PROTEOME RESEARCH
(2023)
Article
Medicine, General & Internal
Lara Camillo, Elia Esposto, Laura Cristina Gironi, Chiara Airoldi, Shahd Abdullah Alhamed, Renzo Luciano Boldorini, Elisa Zavattaro, Paola Savoia
Summary: This study evaluated the correlation between the expression of AQP1, AQP8, and AQP9 and the clinical outcomes of malignant melanoma (MM) patients. The results showed that AQPs were more highly expressed in superficial spreading melanoma (SSM), suggesting a potential correlation with prognosis. Further analysis revealed that AQP1 was associated with specific body sites and low mitotic index, AQP8 with negative sentinel lymph node, and AQP9 with Breslow thickness and lack of ulcerations. The findings suggest that the expression of AQP1, AQP8, and AQP9 may be correlated with a better prognosis for malignant melanoma.
JOURNAL OF CLINICAL MEDICINE
(2023)