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
Biochemistry & Molecular Biology
James Whitworth, Ruth T. Casey, Philip S. Smith, Olivier Giger, Jose Ezequiel Martin, Graeme Clark, Jaqueline Cook, Marlee S. Fernando, Phillipe Taniere, Eamonn R. Maher
Summary: This study reports a rare case of a mother-son diad with wild-type GIST, both found to have germline truncating variants in SDHA and PALB2 through comprehensive genetic testing. The mother also developed breast ductal carcinoma in-situ, with immunohistochemistry and molecular analysis showing loss of SDHB expression in the wtGISTs. The presence of multilocus inherited neoplasia alleles syndrome (MINAS) in this family may have contributed to the highly unusual occurrence of familial wtGIST.
EUROPEAN JOURNAL OF HUMAN GENETICS
(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.
Review
Oncology
Richard Morgan, Keith Hunter, Hardev S. Pandha
Summary: HOX genes are highly conserved transcription factors with key roles in early development and are also highly expressed in most cancers. Studies have found strong associations between HOX gene expression in tumors and clinical parameters, with high expression levels often associated with worse patient outcomes.
INTERNATIONAL JOURNAL OF CANCER
(2022)
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.
Article
Pathology
Paula Rofes, Sara Gonzalez, Matilde Navarro, Jose Marcos Moreno-Cabrera, Ares Solanes, Esther Darder, Estela Carrasco, Silvia Iglesias, Monica Salinas, Carolina Gomez, Angela Velasco, Noemi Tuset, Mar Varela, Gemma Llort, Teresa Ramon y Cajal, Elia Grau, Nuria Duenas, Napoleon de la Ossa Merlano, Xavier Matias-Guiu, Barbara Rivera, Judith Balmana, Marta Pineda, Joan Brunet, Gabriel Capella, Jesus del Valle, Conxi Lazaro
Summary: This study revealed that approximately 64% of classic FAP patients have mosaic pathogenic variants in the APC gene, highlighting the importance of APC mosaicism in the etiology of classic FAP. Furthermore, the results emphasize the significance of testing target tissues when blood test results are negative.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2021)
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.
Article
Multidisciplinary Sciences
Jacopo Azzollini, Luca Agnelli, Elena Conca, Tommaso Torelli, Adele Busico, Iolanda Capone, Marta Angelini, Elena Tamborini, Federica Perrone, Andrea Vingiani, Daniele Lorenzini, Bernard Peissel, Giancarlo Pruneri, Siranoush Manoukian
Summary: Tumour DNA sequencing is important for precision medicine and identifying patients who may benefit from germline testing. However, the workflow of tumour-to-germline testing has limitations, such as low sensitivity for indels in homopolymeric regions. Our study found that the prevalence of overlooked homopolymeric indels by ion semiconductor techniques is apparently low, and a careful evaluation of clinical and family history data can help minimize this limitation.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
Yi Chen, Yang Zhang, Zhihua Wang, Yewei Wang, Yujiao Luo, Nannan Sun, Shasha Zheng, Wenzhe Yan, Xiang Xiao, Sufang Liu, Ji Li, Hongling Peng, Yunxiao Xu, Guoyu Hu, Zhao Cheng, Guangsen Zhang
Summary: In this study, we investigated the clinical and hematological features of three genetically related families predisposed to myeloproliferative neoplasms (MPNs). We identified a mutation in the CHST15 gene, which resulted in increased JAK2V617F allele burden and upregulated p-Stat3 activity, leading to increased proliferative and prodifferentiation potential of transgenic cells.
CELL DEATH & DISEASE
(2022)
Article
Endocrinology & Metabolism
Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twito
Summary: This study analyzed the gene mutations in Israeli MTC patients and found that Cys618Arg mutation was the most common. The Cys618Arg group, which was associated with a specific Jewish Moroccan family, had smaller tumors and lower calcitonin levels compared to the Cys634Arg/Thr/Tyr group. However, the long-term outcomes of MTC were similar between the two groups.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Mutaz Amin, Jurg Ott, Rongling Wu, Teodor T. Postolache, Claudia Gragnoli
Summary: Melanocortin receptor genes are associated with the risk of major depressive disorder (MDD) and type 2 diabetes (T2D). This study found that MC2R and MC5R genes are associated with MDD, while MC1R, MC2R, MC3R, and MC4R genes are associated with T2D. These findings provide important insights into the role of melanocortin receptor genes in the comorbidity of MDD and T2D.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Siddhartha Yadav, Chunling Hu, Katherine L. Nathanson, Jeffrey N. Weitzel, David E. Goldgar, Peter Kraft, Rohan D. Gnanaolivu, Jie Na, Hongyan Huang, Nicholas J. Boddicker, Nicole Larson, Chi Gao, Song Yao, Clarice Weinberg, Celine M. Vachon, Amy Trentham-Dietz, Jack A. Taylor, Dale R. Sandler, Alpa Patel, Julie R. Palmer, Janet E. Olson, Susan Neuhausen, Elena Martinez, Sara Lindstrom, James V. Lacey, Allison W. Kurian, Esther M. John, Christopher Haiman, Leslie Bernstein, Paul W. Auer, Hoda Anton-Culver, Christine B. Ambrosone, Rachid Karam, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Jill S. Dolinsky, Steven N. Hart, Holly LaDuca, Eric C. Polley, Susan M. Domchek, Fergus J. Couch
Summary: The study found that ATM, BRCA2, CDH1, CHEK2, and PALB2 pathogenic variants are associated with an increased risk of ILC, while BRCA1 pathogenic variants are not. CDH1 pathogenic variants are significantly enriched in ILC, while BRCA1 pathogenic variants are substantially reduced.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
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
Oncology
Axel Stenmark Tullberg, Dan Lundstedt, Roger Olofsson Bagge, Per Karlsson
Article
Oncology
Sherene Loi, Anita Giobbie-Hurder, Andrea Gombos, Thomas Bachelot, Rina Hui, Giuseppe Curigliano, Mario Campone, Laura Biganzoli, Herve Bonnefoi, Guy Jerusalem, Rupert Bartsch, Manuela Rabaglio-Poretti, Roswitha Kammler, Rudolf Maibach, Mark J. Smyth, Angelo Di Leo, Marco Colleoni, Giuseppe Viale, Meredith M. Regan, Fabrice Andre, Debora Fumagalli, Richard D. Gelber, Theodora Goulioti, Anita Hiltbrunner, Rita Hui, Heidi Roschitzki, Barbara Ruepp, Fran Boyle, Rolf Stahel, Stefan Aebi, Alan S. Coates, Aron Goldhirsch, Per Karlsson, Ingrid Kossler, Stamatina Fournarakou, Adriana Gasca, Rita Pfister, Sabrina Ribeli-Hofmann, Magdelena Weber, Daniela Celotto, Carmen Comune, Michela Frapolli, Magdalena Sanchez-Hohl, Hui Huang, Caitlin Mahoney, Karen Price, Karolyn Scott, Holly Shaw, Susan Fischer, Monica Greco, Colleen King, Stefania Andrighetto, Martine Piccart-Gebhart, Heather Findlay, Michelle Jenkins, Vassiliki Karantza, Jaime Mejia, Patrick Schneier
Article
Oncology
Martin Sjostrom, S. Laura Chang, Nick Fishbane, Elai Davicioni, Linda Hartman, Erik Holmberg, Felix Y. Feng, Corey W. Speers, Lori J. Pierce, Per Malmstrom, Marten Ferno, Per Karlsson
CLINICAL CANCER RESEARCH
(2020)
Article
Oncology
Hanna Engqvist, Toshima Z. Parris, Aniko Kovacs, Elisabeth Werner Ronnerman, Karin Sundfeldt, Per Karlsson, Khalil Helou
FRONTIERS IN ONCOLOGY
(2020)
Article
Oncology
Fredrika Killander, Elinore Wieslander, Per Karlsson, Erik Holmberg, Dan Lundstedt, Lars Holmberg, Linda Werner, Sasha Koul, Mahnaz Haghanegi, Elisabeth Kjellen, Per Nilsson, Per Malmstrom
INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
(2020)
Article
Multidisciplinary Sciences
Peter Larsson, Hanna Engqvist, Jana Biermann, Elisabeth Werner Ronnerman, Eva Forssell-Aronsson, Aniko Kovacs, Per Karlsson, Khalil Helou, Toshima Z. Parris
SCIENTIFIC REPORTS
(2020)
Article
Oncology
Carina Strell, Axel Stenmark Tullberg, Reidunn Jetne Edelmann, Lars Andreas Akslen, Per Malmstrom, Marten Ferno, Erik Holmberg, Arne Ostman, Per Karlsson
Summary: The study found that a higher PDGFRb score is associated with a greater risk of any recurrence and may affect the efficacy of radiotherapy. However, while patients with high PDGFRb scores experienced reduced benefit from radiotherapy, no significant interaction was detected.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Article
Oncology
Carina Strell, Dick Folkvaljon, Erik Holmberg, Aglaia Schiza, Viktoria Thurfjell, Per Karlsson, Jonas Bergh, Troy Bremer, Lars A. Akslen, Fredrik Warnberg, Arne Ostman
Summary: This study reveals the potential of stromal PDGFRb expression as a biomarker for RT benefit in DCIS patients, suggesting that low PDGFRb expression is predictive of strong RT benefit for IBE risk reduction, while high PDGFRb expression is not significantly associated with risk reduction.
CLINICAL CANCER RESEARCH
(2021)
Article
Oncology
Nina Oparina, Malin C. Erlandsson, Anna Faldt Beding, Toshima Parris, Khalil Helou, Per Karlsson, Zakaria Einbeigi, Maria I. Bokarewa
Summary: In this study, the activity of BIRC5 in breast cancer patients was explored for clinically relevant information, revealing that high levels of BIRC5 protein or mRNA were associated with poor survival, indicating its potential as a promising cancer survival marker. Different subsets by ER expression and nodal status supported an independent association of high BIRC5 with poor prognosis.
Article
Oncology
Stefan Aebi, Per Karlsson, Irene L. Wapnir
Summary: Locally advanced breast cancer refers to breast adenocarcinoma that is inoperable without distant metastasis. A multidisciplinary approach is required for the treatment of patients with locally advanced breast cancer. Staging exams are necessary to assess the risk of distant metastasis. The incidence of locally advanced breast cancer has decreased in recent years. Treatment strategies for locally advanced breast cancer are often extrapolated from studies on patients with less or more advanced disease. Pathologic confirmation and molecular profiling are essential for determining the appropriate neoadjuvant chemotherapy. Preoperative endocrine therapy and targeted therapies are being investigated for certain clinical situations. Promising results have been observed with anti-HER2 agents in HER2 positive locally advanced breast cancer, and PD-1 and PD-L1 antibodies show potential in 'triple-negative' locally advanced breast cancer. Neoadjuvant therapy can lead to conservative surgery in many patients, but mastectomy may still be necessary for inflammatory breast cancer. Postoperative radiotherapy is usually recommended. Multidisciplinary teams play a crucial role in optimizing local control and preventing relapse. However, there is a need for specific research efforts to further improve the survival outcomes for patients with locally advanced breast cancer.
Article
Oncology
Julia Tutzauer, Martin Sjostrom, Erik Holmberg, Per Karlsson, Fredrika Killander, L. M. Fredrik Leeb-Lundberg, Per Malmstrom, Emma Nimeus, Marten Ferno, Annika Jogi
Summary: This study found that postoperative radiotherapy still benefits patients with hypoxic primary breast tumors. However, compared to patients with HIF-1 alpha-negative tumors, patients with HIF-1 alpha-positive tumors had a higher risk of recurrence and breast cancer death.
BRITISH JOURNAL OF CANCER
(2022)
Article
Oncology
Fredrik Waernberg, Per Karlsson, Erik Holmberg, Kerstin Sandelin, Pat W. Whitworth, Jess Savala, Todd Barry, Glen Leesman, Steven P. Linke, Steven C. Shivers, Frank Vicini, Chirag Shah, Sheila Weinmann, Gregory Bruce Mann, Troy Bremer
Summary: Although clinical advancements in the diagnosis and treatment of ductal carcinoma in situ (DCIS) have been made, determining who will benefit from radiotherapy (RT) remains a challenge. DCISionRT is able to identify women at high risk of recurrence and provide beneficial RT treatment for them, while also determining that women at low risk of recurrence do not benefit significantly from RT.
Article
Oncology
Aglaia Schiza, Viktoria Thurfjell, Axel Stenmark Tullberg, Helena Olofsson, Amanda Lindberg, Erik Holmberg, Troy Bremer, Patrick Micke, Per Karlsson, Fredrik Waernberg, Carina Strell
Summary: This study analyzed the clinical impact of tumor-infiltrating lymphocytes (TILs) in patients with ductal carcinoma in situ (DCIS). The results showed that high TILs were associated with an increased risk of ipsilateral breast events (IBEs) over five years post-surgery, particularly for HER2-negative DCIS patients. This indicates that TILs can serve as an important marker to determine the need for adjuvant therapy or potential benefits from immunotherapy in low-risk DCIS patients.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Oncology
Moa Egelberg, Tommaso De Marchi, Gyula Pekar, Lena Tran, Par-Ola Bendahl, Axel Stenmark Tullberg, Erik Holmberg, Per Karlsson, Marianne Farnebo, Fredrika Killander, Emma Nimeus
Summary: The study evaluated the prognostic and predictive role of WRAP53 protein and RNA levels in breast cancer patients. Results showed that low WRAP53 protein levels were associated with increased risk of local recurrence and breast cancer-related death. Low WRAP53 RNA levels were associated with decreased effect of radiotherapy in relation to ipsilateral breast tumor recurrence, indicating potential radioresistance.
MOLECULAR ONCOLOGY
(2023)
Article
Oncology
Axel Stenmark Tullberg, Martin Sjostrom, Lena Tran, Emma Nimeus, Fredrika Killander, Aniko Kovacs, Dan Lundstedt, Erik Holmberg, Per Karlsson
Summary: This study investigates the use of immunological biomarkers for individualized radiotherapy in breast cancer. The integration of histological grade, tumor-infiltrating lymphocytes (TILs), programmed cell death protein-1 (PD-1), and programmed death ligand-1 (PD-L1) can identify high-risk tumors with a reduced risk of recurrence after radiotherapy. However, no significant benefit of an activated immune infiltrate is observed in low-risk tumors.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2023)
