Article
Gastroenterology & Hepatology
Jasmin Zessner-Spitzenberg, Elisabeth Waldmann, Lena Jiricka, Lisa-Maria Rockenbauer, Anna Hinterberger, Jeremy Cook, Arno Asaturi, Aleksandra Szymanska, Barbara Majcher, Michael Trauner, Monika Ferlitsch
Summary: This study investigated the association of proximal serrated polyp detection rate (PSDR) and adenoma detection rate (ADR) with post-colonoscopy colorectal cancer (PCCRC) death. The results showed that both ADR and PSDR were significantly associated with PCCRC death. Therefore, striving for a high PSDR in addition to a high ADR may reduce the risk of PCCRC mortality in patients undergoing screening colonoscopy.
Article
Oncology
Maria Dobre, Alessandro Salvi, Iulia Andreea Pelisenco, Florina Vasilescu, Giuseppina De Petro, Vlad Herlea, Elena Milanesi
Summary: Colorectal cancer is characterized by mutations and abnormal DNA methylation in tumor suppressor and proto-oncogenes. This study identified nine genes with high methylation levels in tumor tissues compared to normal tissues. Molecular sub-classification based on mutations and epigenetic modifications may help identify epigenetic biomarkers for personalized treatment strategies to improve patient outcomes.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Lauren Y. Cheng, Lauren E. Haydu, Ping Song, Jianyi Nie, Michael T. Tetzlaff, Lawrence N. Kwong, Jeffrey E. Gershenwald, Michael A. Davies, David Yu Zhang
Summary: The study demonstrates that the NuProbe VarTrace BRAF sequencing technology can detect BRAF V600 mutations down to 0.20% VAF from FFPE lymph node tissue samples, with high concordance among various methods for samples with VAF>=1% BRAF mutations, but with possible false negatives in IHC. The BDA Sanger method is effective for rapid detection and quantitation of multiple low VAF BRAF mutations.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Piotr Rutkowski, Patrick Pauwels, Joseph Kerger, Bart Jacobs, Geert Maertens, Valerie Gadeyne, Anne Thielemans, Katrien de Backer, Bart Neyns
Summary: The choice of cancer drugs for advanced melanoma treatment depends on gene alterations in the patient's tumor. Blood samples can reliably determine gene alterations, offering a convenient and fast option for testing. This study suggests that using blood samples for testing could be a less invasive and quick alternative to identify BRAF mutation status in melanoma patients.
Article
Oncology
Beatriz Sanchez-Sendra, Jose F. Gonzalez-Munoz, Silvia Perez-Deben, Carlos Monteagudo
Summary: This study found that BRAF mutations do not significantly affect the predictive ability of miR-125b, miR-200c, and miR-205. These three miRNAs can independently predict the clinical outcomes of patients with primary melanoma, regardless of BRAF mutational status.
Article
Genetics & Heredity
Ursula Prosenc Zmrzljak, Rok Kosir, Zoran Krivokapic, Dragica Radojkovic, Aleksandra Nikolic
Summary: Liquid biopsy and cell-free DNA have great potential in cancer diagnostics, with a custom ddPCR assay designed for quantification of cfDNA in serum. The study validated the assay on CRC patients, hemorrhoid patients, and healthy controls, comparing mutation status in primary tumors and cfDNA isolated from serum. The findings suggest caution in interpreting decisions based solely on cfDNA levels in patient serum, and explore the potential of ddPCR somatic mutations detection from liquid biopsy as a supplement to tissue biopsy in personalized CRC patient management.
Review
Biochemistry & Molecular Biology
Laura Maria Gosman, Dana-Antonia Tapoi, Mariana Costache
Summary: This review provides a comprehensive overview of the etiology of cutaneous melanoma (CM), emphasizing the importance of early detection and discussing the role of emerging biomarkers in diagnosis and treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Anna Lahn Sorensen, Mariann Guldmann-Christensen, Michael Borgesen, Rasmus Koefoed Petersen, Katharina Flugt, Julie Mejer Holmgaard Duelund, Majbritt Hauge Kyneb, Jan Lorenzen, Emma Pipo-Olle, Samantha Epistolio, Alice Riva, Giulia Dazio, Elisabetta Merlo, Tine Meyer, Ulf Bech Christensen, Milo Frattini
Summary: Mutations in BRAF exon 15 lead to constitutively active BRAF proteins, which are associated with the development of several human cancer types. The SensiScreen((R)) FFPE BRAF qPCR Assay is a novel real-time PCR-based method that displays high sensitivity, specificity, and ease of use. It allows for the identification and characterization of BRAF mutations, providing a more specific and cost-effective approach for cancer patients.
Review
Oncology
Giorgia Castellani, Mariachiara Buccarelli, Maria Beatrice Arasi, Stefania Rossi, Maria Elena Pisanu, Maria Bellenghi, Carla Lintas, Claudio Tabolacci
Summary: Cutaneous melanoma, the most aggressive form of skin cancer, is driven by the accumulation of genetic alterations, including BRAF mutations. Targeted therapies against these mutations have revolutionized the treatment of melanoma patients, but resistance remains a challenge. This review summarizes recent findings on the impact of BRAF mutations on melanoma development, with a focus on inflammation, as well as the mechanisms of resistance to BRAF inhibitors and circulating tumor biomarkers.
Article
Multidisciplinary Sciences
Filipa Alves da Costa, Adriana Ramos, Catarina Bernardo, Fabio Cardoso Borges, Ana Costa Miranda
Summary: This is a population-based cohort study conducted in the South Region of Portugal to estimate the incidence of cutaneous malignant melanoma, characterize diagnosed individuals, describe treatment, and estimate survival outcomes. The study found a melanoma incidence rate of 13.36/100,000 inhabitants and a 3-year overall survival rate of 80.54%. The adjusted hazard ratio showed a two-fold increased risk of recurrence/death in the presence of ulcerated tumors.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Sheehyun Kim, Yoojoo Lim, Jun-Kyu Kang, Hwang-Phill Kim, Hanseong Roh, Su Yeon Kim, Dongin Lee, Duhee Bang, Seung-Yong Jeong, Kyu Joo Park, Sae-Won Han, Tae-You Kim
Summary: This study analyzed serial blood samples from metastatic colorectal cancer patients and sequenced ctDNA to evaluate its clinical utility. The results showed that ctDNA clearance after chemotherapy was associated with longer progression-free survival, independent of radiological response. Longitudinal ctDNA monitoring detected ctDNA progression earlier than radiological progressive disease in a significant percentage of patients.
BRITISH JOURNAL OF CANCER
(2022)
Article
Oncology
Lazaro Hiram Betancourt, Jeovanis Gil, Aniel Sanchez, Viktoria Doma, Magdalena Kuras, Jimmy Rodriguez Murillo, Erika Velasquez, Ugur Cakir, Yonghyo Kim, Yutaka Sugihara, Indira Pla Parada, Beata Szeitz, Roger Appelqvist, Elisabet Wieslander, Charlotte Welinder, Natalia Pinto de Almeida, Nicole Woldmar, Matilda Marko-Varga, Jonatan Eriksson, Krzysztof Pawlowski, Bo Baldetorp, Christian Ingvar, Hakan Olsson, Lotta Lundgren, Henrik Lindberg, Henriett Oskolas, Boram Lee, Ethan Berge, Marie Sjogren, Carina Eriksson, Dasol Kim, Ho Jeong Kwon, Beatrice Knudsen, Melinda Rezeli, Johan Malm, Runyu Hong, Peter Horvath, A. Marcell Szasz, Jozsef Timar, Sarolta Karpati, Peter Horvatovich, Tasso Miliotis, Toshihide Nishimura, Harubumi Kato, Erik Steinfelder, Madalina Oppermann, Ken Miller, Francesco Florindi, Quimin Zhou, Gilberto B. Domont, Luciana Pizzatti, Fabio C. S. Nogueira, Leticia Szadai, Istvan Balazs Nemeth, Henrik Ekedahl, David Fenyo, Gyorgy Marko-Varga
Summary: The MM500 meta-study aims to establish a knowledge basis of the tumor proteome as a complement to genome and transcriptome studies. By analyzing 505 well-annotated melanoma tumor samples, the study defined the melanoma proteome landscape, including thousands of proteins and mutated proteoforms. The study found a high degree of correlation between the melanoma transcriptome and proteome, increasing understanding of melanoma disease.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Oncology
Huan Li, Lujing Yang, Yumei Lai, Xintong Wang, Xinyin Han, Siyao Liu, Dongliang Wang, Xiaojuan Li, Nana Hu, Yan Kong, Lu Si, Zhongwu Li
Summary: This study is the first to demonstrate genetic alterations specific to Chinese patients with RMM. The research confirmed that genetic alterations in RMM differ from cutaneous melanoma (CM). The study suggests that BRAF and NRG1 are associated with poor prognosis in RMM and may be potential therapeutic targets for RMM treatment.
Article
Medicine, General & Internal
Elodie Long-Mira, Alexandra Picard-Gauci, Sandra Lassalle, Veronique Hofman, Salome Lalvee, Virginie Tanga, Katia Zahaf, Christelle Bonnetaud, Virginie Lespinet, Olivier Camuzard, Henri Montaudie, Gilles Poissonnet, Thierry Passeron, Marius Ilie, Paul Hofman
Summary: Testing for the BRAF mutation is essential for managing patients with locally advanced or metastatic melanoma. Using molecular analysis based on DNA sequencing is the gold standard method for screening mutations. Comparison between the Idylla BRAF Mutation Test and anti-BRAF V600E immunohistochemistry showed a 91% agreement rate for the detection of BRAF V600E mutation.
Article
Oncology
Gregory J. Riely, Egbert F. Smit, Myung-Ju Ahn, Enriqueta Felip, Suresh S. Ramalingam, Anne Tsao, Melissa Johnson, Francesco Gelsomino, Raymond Esper, Ernest Nadal, Michael Offin, Mariano Provencio, Jeffrey Clarke, Maen Hussain, Gregory A. Otterson, Ibiayi Dagogo-Jack, Jonathan W. Goldman, Daniel Morgensztern, Ann Alcasid, Tiziana Usari, Paul Wissel, Keith Wilner, Nuzhat Pathan, Svitlana Tonkovyd, Bruce E. Johnson
Summary: The combination of encorafenib and binimetinib showed clinical efficacy and acceptable safety in patients with BRAF(V600E)-mutant metastatic NSCLC.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Line Pedersen, Pouda Panahandeh, Muntequa I. Siraji, Stian Knappskog, Per Eystein Lonning, Ruth Gordillo, Philipp E. Scherer, Anders Molven, Knut Teigen, Nils Halberg
Article
Multidisciplinary Sciences
Deepak Poduval, Zuzana Sichmanova, Anne Hege Straume, Per Eystein Lonning, Stian Knappskog
Article
Oncology
Deepak B. Poduval, Elisabet Ognedal, Zuzana Sichmanova, Eivind Valen, Gjertrud T. Iversen, Laura Minsaas, Per E. Lonning, Stian Knappskog
CLINICAL EPIGENETICS
(2020)
Article
Microbiology
Joel Touma, Yan Liu, Afsar Rahbar, Mattia Russel Pantalone, Nerea Martin Almazan, Katja Vetvik, Cecilia Soderberg-Naucler, Jurgen Geisler, Torill Sauer
Summary: The study revealed a significant association between HCMV and human malignancies, specifically in breast cancer tumors, and emphasized the importance of automating diagnostic procedures to improve clinical value. The method developed for staining HCMV late antigen (LA) was shown to be highly sensitive and reproducible, making it useful for future diagnostics and scientific applications.
Article
Oncology
Joana Reis, Owen Thomas, Maryam Lahooti, Marianne Lyngra, Hossein Schandiz, Joao Boavida, Kjell-Inge Gjesdal, Torill Sauer, Jurgen Geisler, Jonn Terje Geitung
Summary: In postmenopausal ER-positive/HER-2-negative LABC patients treated with neoadjuvant endocrine therapy, there is a correlation between MRI morphological response patterns and histopathological tumor regression grading. The type II MRI pattern was most common after 2 and 4 months of therapy, with histopathological regression grade 3 being the most common after 4 months. The correlation between MRI patterns and histopathology was moderate, with type IV showing the strongest correlation.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Article
Genetics & Heredity
B. Liv Gansmo, A. Benedicte Lie, Marthe T. Maehlen, Lars Vatten, Pal Romundstad, Kristian Hveem, Per E. Lonning, Stian Knappskog
Summary: The study found a potential association between the MDM2 del1518 variant and the risk of rheumatoid arthritis, as well as indications that combinational genotypes and haplotypes in the MDM2 locus may be related to rheumatoid arthritis.
Article
Endocrinology & Metabolism
Bjorn-Erik Bertelsen, Kristin Viste, Thomas Helland, Magnus Hagland, Havard Soiland, Jurgen Geisler, Tone Hoel Lende, Per Eystein Lonning, Jorn Sagen, Gunnar Mellgren, Bjorg Almas
Summary: This study developed a liquid chromatography-tandem mass spectrometry (MS/MS) method for simultaneous measurement of serum levels of third-generation aromatase inhibitors (AIs) and ultra-low levels of estrogens. The method is highly valuable for studying drug efficacy and compliance.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Multidisciplinary Sciences
Liv B. Gansmo, Nigar Sofiyeva, Merete Bjornslett, Pal Romundstad, Kristian Hveem, Lars Vatten, Anne Dorum, Per E. Lonning, Stian Knappskog
Summary: The germline deletion of APOBEC3A/B is associated with a reduced risk of ovarian cancer, particularly in non-serous and serous cases. Validation from an independent dataset shows similar trends, with a significant risk reduction observed in clear cell cancers.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Nigar Sofiyeva, Camilla Krakstad, Mari K. Halle, Tracy A. O'Mara, Pal Romundstad, Kristian Hveem, Lars Vatten, Per E. Lonning, Liv B. Gansmo, Stian Knappskog
Summary: The APOBEC3A/B deletion variant is associated with a decreased risk of endometrial cancer in Norwegian women.
Article
Virology
Joel Touma, Mattia Russel Pantalone, Afsar Rahbar, Yan Liu, Katja Vetvik, Torill Sauer, Cecilia Soderberg-Naucler, Juergen Geisler
Summary: The objective of this study was to identify novel risk and prognostic factors associated with breast cancer for improved treatment and increased survival rates. The results showed that patients with HCMV-positive tumors had a poorer prognosis, suggesting a link between HCMV infection and breast cancer prognosis, and indicating potential for novel clinical intervention and targeted therapy.
Article
Oncology
Cecilie Fredvik Torkildsen, Liv Cecilie Vestrheim Thomsen, Ragnar Kvie Sande, Camilla Krakstad, Ingunn Stefansson, Eva Karin Lamark, Stian Knappskog, Line Bjorge
Summary: In this study, phenotypic markers were combined with targeted DNA sequencing to discover novel biomarkers for guiding surgical management in high-grade serous ovarian carcinoma (HGSOC) patients. The study highlights the potential of a preoperative risk stratification model combining phenotypic traits and single-gene mutational status in predicting surgical outcomes.
Article
Endocrinology & Metabolism
Bjorn-Erik Bertelsen, Ralf Kellmann, Kristin Viste, Anne Turid Bjornevik, Hans Petter Eikesdal, Per Eystein Lonning, Jorn Sagen, Bjorg Almas
JOURNAL OF THE ENDOCRINE SOCIETY
(2020)
Meeting Abstract
Oncology
P. E. Lonning, C. Clausen, E. S. Blix, S. Lundgren, G. Vagstad, H. Espelid, B. Gilje, E. A. Janssen, J. Geisler, T. Aas, H. Aase, S. Knappskog, H. P. Eikesdal
ANNALS OF ONCOLOGY
(2019)
Meeting Abstract
Oncology
H. P. Eikesdal, S. Yndestad, E. S. Blix, S. Lundgren, G. Vagstad, H. Espelid, B. Gilje, E. A. Janssen, J. Geisler, T. Aas, H. Aase, S. Knappskog, P. E. Lonning
ANNALS OF ONCOLOGY
(2019)
