Article
Oncology
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Dynkova Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik
Summary: The study reports a case of an infant with a congenital hypotrophy, short stature, and abnormal facial appearance, diagnosed with extremely rare cancer-predisposing Bloom syndrome. Trio-based exome sequencing revealed she carried a rare combination of causative sequence variants in the BLM gene, along with mosaic loss of heterozygosity of chromosome 11p. This case demonstrates the complexity and effectiveness of trio-based exome sequencing for molecular diagnostics of rare pediatric diseases.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Oncology
Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee
Summary: This article presents seven cases of double heterozygosity (DH) for BRCA1/2 identified in a Korean institution, and compares the characteristics and phenotype of DH individuals with those carrying a single BRCA variant. The study found that DH patients develop breast cancer at a younger age and are more likely to have triple-negative breast cancer and higher grade cancers compared to patients with a single BRCA2 variant. These findings have important implications for the early diagnosis and treatment of breast cancer.
CANCER RESEARCH AND TREATMENT
(2022)
Article
Biochemistry & Molecular Biology
Laszlo Madar, Viktoria Majoros, Zsuzsanna Szucs, Orsolya Nagy, Tamas Babicz, Henriett Butz, Attila Patocs, Istvan Balogh, Katalin Koczok
Summary: Here, we present a case of a female patient carrying double heterozygous mutations in the BRCA1 and BRCA2 genes, who was diagnosed with breast cancer. Genetic testing revealed two pathogenic variants in the BRCA1 gene (c.5095C>T, p.(Arg1699Trp)) and one pathogenic variant in the BRCA2 gene (c.658_659delGT, p.(Val220Ilefs*4)). These rare deleterious mutations are not commonly found in the Jewish population and have not been previously reported in double heterozygous patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Rohit Prakash, Thomas Sandoval, Florian Morati, Jennifer A. Zagelbaum, Pei-Xin Lim, Travis White, Brett Taylor, Raymond Wang, Emilie C. B. Desclos, Meghan R. Sullivan, Hayley L. Rein, Kara A. Bernstein, Przemek M. Krawczyk, Jean Gautier, Mauro Modesti, Fabio Vanoli, Maria Jasin
Summary: The study demonstrates the role of the SWS1-SWSAP1-SPIDR complex in homology-directed repair pathways, particularly in inter-homolog recombination and sister chromatid exchange.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Christelle de Renty, Kelvin W. Pond, Mary K. Yagle, Nathan A. Ellis
Summary: BLM sumoylation plays a role in both normal and replication-stressed conditions. The study showed that cells with SUMO-mutant BLM exhibited defects in DNA replication, such as reduced fork restart and increased fork collapse. The SUMO-mutant BLM protein was found to be less dynamic and had a higher immobile fraction at collapsed replication forks. These findings provide important insights into the relationship between BLM sumoylation and replication stress.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Genetics & Heredity
Ipek Ilgin Goenenc, Nursel H. Elcioglu, Carolina Martinez Grijalva, Seda Aras, Nadine Grossmann, Inka Praulich, Janine Altmueller, Silke Kaulfuss, Yun Li, Peter Nuernberg, Peter Burfeind, Goekhan Yigit, Bernd Wollnik
Summary: Bloom syndrome (BS) is an autosomal recessive disorder characterized by specific clinical features. A new study has reported the clinical and molecular characteristics of eight patients diagnosed with BS, including three different variants in BLM and one variant in RMI1. All BS patients exhibited the typical features of BS, but skin lesions and upper airway infections were observed only in some patients. Patients with pathogenic BLM variants had a more severe BS phenotype compared to patients with pathogenic variants in RMI1, especially in terms of immunodeficiency.
Article
Medicine, General & Internal
Leila Dorling, Sara Carvalho, Jamie Allen, Anna Gonzalez-Neira, Craig Luccarini, Cecilia Wahlstrom, Karen A. Pooley, Michael T. Parsons, Cristina Fortuno, Qin Wang, Manjeet K. Bolla, Joe Dennis, Renske Keeman, M. Rosario Alonso, Nuria Alvarez, Belen Herraez, Victoria Fernandez, Rocio Nunez-Torres, Ana Osorio, Jeanette Valcich, Minerva Li, Therese Torngren, Patricia A. Harrington, Caroline Baynes, Don M. Conroy, Brennan Decker, Laura Fachal, Nasim Mavaddat, Thomas Ahearn, Kristiina Aittomaki, Natalia N. Antonenkova, Norbert Arnold, Patrick Arveux, Margreet G. E. M. Ausems, Paivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Katarzyna Bialkowska, Carl Blomqvist, Natalia V. Bogdanova, Nadja Bogdanova-Markov, Stig E. Bojesen, Bernardo Bonanni, Anne-Lise Borresen-Dale, Hiltrud Brauch, Michael Bremer, Ignacio Briceno, Thomas Bruning, Barbara Burwinkel, David A. Cameron, Nicola J. Camp, Archie Campbell, Angel Carracedo, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, Hans Christiansen, J. Margriet Collee, Emilie Cordina-Duverger, Sten Cornelissen, Kamila Czene, Thilo Doerk, Arif B. Ekici, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Asta Foersti, Marike Gabrielson, Manuela Gago-Dominguez, Vassilios Georgoulias, Fabian Gil, Graham G. Giles, Gord Glendon, Encarna B. Gomez Garcia, Grethe I. Grenaker Alnaes, Pascal Guenel, Andreas Hadjisavvas, Lothar Haeberle, Eric Hahnen, Per Hall, Ute Hamann, Elaine F. Harkness, Jaana M. Hartikainen, Mikael Hartman, Wei He, Bernadette A. M. Heemskerk-Gerritsen, Peter Hillemanns, Frans B. L. Hogervorst, Antoinette Hollestelle, Weang Kee Ho, Maartje J. Hooning, Anthony Howell, Keith Humphreys, Faiza Idris, Anna Jakubowska, Audrey Jung, Pooja Middha Kapoor, Michael J. Kerin, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Veli-Matti Kosma, Vessela N. Kristensen, Kyriacos Kyriacou, Inge M. M. Lakeman, Jong Won Lee, Min Hyuk Lee, Jingmei Li, Annika Lindblom, Wing-Yee Lo, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubinski, Robert J. MacInnis, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Tabea Maurer, Dimitrios Mavroudis, Catriona McLean, Alfons Meindl, Arjen R. Mensenkamp, Kyriaki Michailidou, Nicola Miller, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Heli Nevanlinna, William G. Newman, Borge G. Nordestgaard, Pei-Sze Ng, Jan C. Oosterwijk, Sue K. Park, Tjoung-Won Park-Simon, Jose I. A. Perez, Paolo Peterlongo, David J. Porteous, Karolina Prajzendanc, Darya Prokofyeva, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Thomas Rudiger, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Andreas Schneeweiss, Peter Schurmann, Mitul Shah, Christof Sohn, Melissa C. Southey, Harald Surowy, Maija Suvanto, Somchai Thanasitthichai, Ian Tomlinson, Diana Torres, Therese Truong, Maria Tzardi, Yana Valova, Christi J. van Asperen, Rob M. Van Dam, Ans M. W. van den Ouweland, Lizet E. van der Kolk, Elke M. van Veen, Camilla Wendt, Justin A. Williams, Xiaohong R. Yang, Sook-Yee Yoon, M. Pilar Zamora, D. Gareth Evans, Miguel de la Hoya, Jacques Simard, Antonis C. Antoniou, Ake Borg, Irene L. Andrulis, Jenny Chang-Claude, Montserrat Garcia-Closas, Georgia Chenevix-Trench, Roger L. Milne, Paul D. P. Pharoah, Marjanka K. Schmidt, Amanda B. Spurdle, Maaike P. G. Vreeswijk, Javier Benitez, Alison M. Dunning, Anders Kvist, Soo H. Teo, Peter Devilee, Douglas F. Easton
Summary: This study sequenced samples from 60,466 women with breast cancer and 53,461 controls using a panel of 34 putative susceptibility genes, identifying associations between protein-truncating variants in certain genes and breast cancer risk. The results provide important information for genetic counseling and define genes that are most clinically useful for predicting breast cancer risk.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Edith Borcoman, Elizabeth Santana dos Santos, Catherine Genestie, Patricia Pautier, Ludovic Lacroix, Sandrine M. Caputo, Odile Cabaret, Marine Guillaud-Bataille, Judith Michels, Aurelie Auguste, Alexandra Leary, Etienne Rouleau
Summary: Somatic and germline BRCA1/2 mutations are the best predictive biomarkers for PARP inhibitor efficacy. Combining tumor-based BRCA1/2 and TP53 mutation testing can improve the identification and interpretation of somatic BRCA mutations. This study identified a high percentage of pathogenic BRCA mutations in high-grade serous ovarian cancer patients and demonstrated the usefulness of TP53 allelic fraction in interpreting BRCA mutations and inferring loss of heterozygosity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Feng Bai, Li-Han Zhang, Xiong Liu, Chuying Wang, Chenglong Zheng, Jianping Sun, Min Li, Wei-Guo Zhu, Xin-Hai Pei
Summary: The study reveals a positive correlation between BRCA1 and GATA3 expression in human breast cancers. Depletion of BRCA1 stimulates methylation of GATA3 promoter, repressing GATA3 transcription. Additionally, GATA3 deficiency induces poorly-differentiated mammary tumors with activated EMT and increased metastatic potential.
Review
Biochemistry & Molecular Biology
Akiyoshi Kasuga, Takeshi Okamoto, Shohei Udagawa, Chinatsu Mori, Takafumi Mie, Takaaki Furukawa, Yuto Yamada, Tsuyoshi Takeda, Masato Matsuyama, Takashi Sasaki, Masato Ozaka, Arisa Ueki, Naoki Sasahira
Summary: Hereditary pancreatic cancers are mainly caused by inherited genes, with familial pancreatic cancer accounting for a portion of cases. Known susceptibility genes include BRCA1 and BRCA2. Targeted medications have been developed for these mutations. Additionally, certain features are associated with homologous recombination deficiency and sensitivity to targeted therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Francesca Mateo, Zhengcheng He, Lin Mei, Gorka Ruiz de Garibay, Carmen Herranz, Nadia Garcia, Amanda Lorentzian, Alexandra Baiges, Eline Blommaert, Antonio Gomez, Oriol Mirallas, Anna Garrido-Utrilla, Luis Palomero, Roderic Espin, Ana Extremera, M. Teresa Soler-Monso, Anna Petit, Rong Li, Joan Brunet, Ke Chen, Susanna Tan, Connie J. Eaves, Curtis McCloskey, Razq Hakem, Rama Khokha, Philipp F. Lange, Conxi Lazaro, Christopher A. Maxwell, Miquel Angel Pujana
Summary: Breast cancer risk for carriers of BRCA1 pathological variants is influenced by genetic factors, with HMMR being a potential contributor. Overexpression of HMMR has been found to increase the risk of Brca1-mutant breast cancer by modulating the cancer cell phenotype and tumor microenvironment. This study provides insight into the biological basis of increased risk for BRCA1-associated breast cancer.
NATURE COMMUNICATIONS
(2022)
Article
Pathology
Carla B. Ripamonti, Paolo Bossi, Siranoush Manoukian, Laura Locati, Mara Colombo, Maria L. Carcangiu, Andrea Vingiani, Lisa Licitra, Paolo Radice
Summary: This study found that some patients with SGCs in high-risk breast cancer families may have genetic factors associated with breast cancer susceptibility.
Article
Genetics & Heredity
Nathan Ellis, Jianmei Zhu, Mary K. Yagle, Wei-Chih Yang, Jing Huang, Alexander Kwako, Michael M. Seidman, Michael J. Matunis
Summary: The study demonstrates the crucial role of RNF4 in restarting DNA replication and in promoting the normal recovery of damaged DNA replication forks by recognizing and ubiquitinating BLM. Further analysis reveals that RNF4 depletion inhibits the initiation of new DNA replication origins, which can be rescued by co-depletion of BLM.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Thelma Alessandra Sugranes, Maeve Flanagan, Charlene Thomas, Vivian Y. Chang, Michael Walsh, Christopher Cunniff
Summary: This study describes the spectrum of cancers observed in Bloom syndrome, as well as the survival and age of first cancer diagnosis. The findings highlight significant differences in survival and age of diagnosis among different tumor types and genotypes.
GENETICS IN MEDICINE
(2022)
Review
Cell Biology
Xiaoyu Fu, Wei Tan, Qibin Song, Huadong Pei, Juanjuan Li
Summary: Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene involved in important physiological processes and its mutations or defects increase the risk of cancer. This review summarizes the molecular functions and regulation of BRCA1 and discusses recent insights into the detection and treatment of breast cancer associated with BRCA1 mutations.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Oncology
Evgeny N. Imyanitov, Aglaya G. Iyevleva
Summary: Chemotherapy is the mainstay of cancer treatment, with predictive assays helping to personalize drug administration. Genetic deficiencies can impact tumor responsiveness to certain drugs, allowing for dosage adjustment through pharmacogenetic testing. Promising molecular predictors may lead to new clinically useful markers for cytotoxic therapy.
Article
Oncology
Fedor Moiseyenko, Ekaterina S. Kuligina, Albina S. Zhabina, Sergey A. Belukhin, Tatiana A. Laidus, Aleksandr S. Martianov, Kirill A. Zagorodnev, Tatyana N. Sokolova, Svetlana A. Chuinyshena, Maxim M. Kholmatov, Elizaveta Artemieva, Ekaterina O. Stepanova, Tatiana N. Shuginova, Nikita M. Volkov, Grigoriy A. Yanus, Evgeny N. Imyanitov
Summary: The study found that changes in EGFR-mutated ctDNA concentration at 48 hours after the start of therapy can predict the duration of efficacy of TKIs.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2022)
Review
Oncology
G. A. Yanus, E. L. Savonevich, A. P. Sokolenko, A. A. Romanko, V. Ni, E. Kh Bakaeva, O. A. Gorustovich, I. Bizin, E. N. Imyanitov
Summary: The study found that BRCA1/2 gene mutations in Belarusian population show a high level of founder allele effect. This is surprising as the population of Belarus did not experience geographic or cultural isolation throughout history.
Article
Biochemistry & Molecular Biology
Natalia V. Mitiushkina, Grigory A. Yanus, Ekatherina Sh. Kuligina, Tatiana A. Laidus, Alexandr A. Romanko, Maksim M. Kholmatov, Alexandr O. Ivantsov, Svetlana N. Aleksakhina, Evgeny N. Imyanitov
Summary: DNA from formalin-fixed paraffin-embedded (FFPE) tissues is prone to chemical degradation, affecting mutation detection accuracy. By replacing DNA polymerase with a single strand-specific nuclease P1, researchers improved the performance of duplex sequencing in FFPE-derived DNA, resulting in more accurate mutation detection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Anna P. Sokolenko, Luisa Sultanova, Ilya A. Stepanov, Alexandr A. Romanko, Aigul R. Venina, Tatiana N. Sokolova, Hedi S. Musayeva, Marina Ya Tovgereeva, Mareta Kh Magomedova, Khusein U. Akhmatkhanov, Elisa Vagapova, Elkhan A. Suleymanov, Elena V. Vasilyeva, Elvina Kh Bakaeva, Ilya Bizin, Svetlana N. Aleksakhina, Evgeny N. Imyanitov
Summary: Genetic analysis of Chechen patients with high-grade serous ovarian cancer and triple-negative breast cancer revealed certain pathogenic variants associated with mutations.
Article
Biochemistry & Molecular Biology
Anna P. Sokolenko, Fedor V. Moiseyenko, Aglaya G. Iyevleva, Alexandr O. Ivantsov, Georgiy D. Dolmatov, Ksenia V. Shelekhova, Elizaveta V. Gulo, Anastasya X. Topal, Elizaveta V. Artemieva, Nuriniso H. Abduloeva, Nikita A. Rysev, Daria A. Barsova, Natalia V. Levchenko, Nikita M. Volkov, Vitaliy V. Egorenkov, Vladimir M. Moiseyenko, Evgeny N. Imyanitov
Summary: Neoadjuvant chemotherapy can lead to complete elimination of visible cancer cells in breast cancer patients. The use of ultrasensitive genetic methods can help detect residual cancer cells. This study focused on BRCA1 mutation carriers to examine the presence of residual cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Zhijia Wang, Monika Macakova, Andrii Bugai, Sergey G. Kuznetsov, Antti Hassinen, Tina Lenasi, Swapnil Potdar, Caroline C. Friedel, Matjaz Barboric
Summary: Positive transcription elongation factor b (P-TEFb) is a promising target in cancer, and co-targeting it with suppressors of intrinsic apoptosis could be a viable strategy to eliminate cancer cells. By combining clinically relevant antimetabolites and MDM2 inhibitors with selective inhibitors of P-TEFb, p53-dependent death of colorectal cancer cells was induced. The targeting of P-TEFb enhanced apoptosis by anti-metabolite 5-fluorouracil, and switched the fate of cancer cells by the non-genotoxic MDM2 inhibitor Nutlin-3a from cell-cycle arrest to apoptosis.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Cell Biology
Elena Preobrazhenskaya, Amina M. Suleymanova, Ilya Bizin, Fyodor A. Zagrebin, Alexandr A. Romanko, Evgeniya S. Saitova, Rimma S. Mulkidzhan, Evgeny N. Imyanitov
Summary: This study analyzed a large series of IMTs and found that 87% of them exhibited kinase gene rearrangements, with ALK, ROS1, NTRK3, and PDGFRb being the most common genes involved. The reliability of testing for ALK fusions was 100%, while testing for ROS1 fusions had lower accuracy. ALK rearrangements were more common in patients below 1 year of age, and ROS1 fusions occurred more frequently in lung IMTs compared to tumors in other organs.
Article
Biochemistry & Molecular Biology
Aleksandr S. Martianov, Natalia V. Mitiushkina, Anastasia N. Ershova, Darya E. Martynenko, Mikhail G. Bubnov, Priscilla Amankwah, Grigory A. Yanus, Svetlana N. Aleksakhina, Vladislav I. Tiurin, Aigul R. Venina, Aleksandra A. Anuskina, Yuliy A. Gorgul, Anna D. Shestakova, Mikhail A. Maidin, Alexey M. Belyaev, Liliya S. Baboshkina, Aglaya G. Iyevleva, Evgeny N. Imyanitov
Summary: This study analyzed the factors influencing the distribution of actionable genetic alterations in colorectal carcinomas. The study found that there were differences in the distribution of certain genetic alterations based on patients' age and gender. BRAF mutation frequency also showed geographic variation. In addition, a small fraction of CRCs had simultaneous alterations in more than one driver gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Anna P. Sokolenko, Elvina Kh. Bakaeva, Aigul R. Venina, Ekaterina Sh. Kuligina, Alexandr A. Romanko, Svetlana N. Aleksakhina, Yana V. Belysheva, Evgeniya V. Belogubova, Ilya A. Stepanov, Olga A. Zaitseva, Olga S. Yatsuk, Alexandr V. Togo, Zaur M. Khamgokov, Azinat O. Kadyrova, Albert Sh. Pirmagomedov, Marina B. Bolieva, Alexandr A. Epkhiev, Aslan K. Tsutsaev, Madina D. Chakhieva, Khalimat M. Khabrieva, Idris M. Khabriev, Mirza A. Murachuev, Bella N. Buttaeva, Liliya S. Baboshkina, Fatima I. Bayramkulova, Islam R. Katchiev, Lina Kh. Alieva, Grigory A. Raskin, Sergey V. Orlov, Zarema K. Khachmamuk, Karine R. Levonyan, Dariya M. Gichko, Dmitriy V. Kirtbaya, Alexey M. Degtyariov, Luisa V. Sultanova, Hedi S. Musayeva, Alexey M. Belyaev, Evgeny N. Imyanitov
Summary: This study reveals the global-wide contribution of BRCA1/2 genes to high-grade serous ovarian cancer (HGSOC) and breast cancer (BC) morbidity in the North Caucasus region, although the spectrum of their pathogenic variants (PVs) shows ethnicity-specific variations. The data on founder BRCA1/2 alleles can be considered when adjusting the testing procedure to the ethnic origin of patients.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Biochemistry & Molecular Biology
Vladislav I. Tiurin, Elena V. Preobrazhenskaya, Natalia V. Mitiushkina, Aleksandr A. Romanko, Aleksandra A. Anuskina, Rimma S. Mulkidjan, Evgeniya S. Saitova, Elena A. Krivosheyeva, Elena D. Kharitonova, Mikhail P. Shevyakov, Ilya A. Tryakin, Svetlana N. Aleksakhina, Aigul R. Venina, Tatiana N. Sokolova, Aleksandr S. Martianov, Anna D. Shestakova, Alexandr O. Ivantsov, Aglaya G. Iyevleva, Evgeny N. Imyanitov
Summary: RET-kinase-activating gene rearrangements are found in 1-2% of non-small-cell lung carcinomas (NSCLCs), with reliable detection requiring next-generation sequencing (NGS). A new assay based on the comparison of RNA transcripts of different portions of the RET gene was developed, allowing the detection of RET translocations in NSCLCs. The study found a significant occurrence of RET rearrangements in EGFR/KRAS/ALK/ROS1/BRAF/MET-negative carcinomas and a correlation between RET rearrangement and thymidylate synthase expression in female patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Natalia V. Mitiushkina, Vladislav I. Tiurin, Aleksandra A. Anuskina, Natalia A. Bordovskaya, Anna D. Shestakova, Aleksandr S. Martianov, Mikhail G. Bubnov, Anna S. Shishkina, Maria V. Semina, Aleksandr A. Romanko, Ekaterina S. Kuligina, Evgeny N. Imyanitov
Summary: The combination of 3' RACE technology with targeted RNA sequencing panel is an efficient tool for molecular diagnostics of biliary tract carcinomas.
Article
Biochemistry & Molecular Biology
Rimma S. Mulkidjan, Evgeniya S. Saitova, Elena V. Preobrazhenskaya, Karimat A. Asadulaeva, Mikhail G. Bubnov, Ekaterina A. Otradnova, Darya M. Terina, Sofia S. Shulga, Darya E. Martynenko, Maria V. Semina, Evgeniya V. Belogubova, Vladislav I. Tiurin, Priscilla S. Amankwah, Aleksandr S. Martianov, Evgeny N. Imyanitov
Summary: This study conducted a comprehensive analysis of gene rearrangements in tumors with microsatellite instability (MSI). Gene fusions were detected in colorectal carcinomas (CRCs), gastric cancers (GCs), and endometrial cancers (ECs), but not in cervical carcinomas (CCs), pancreatic cancers (PanCs), cholangiocarcinomas (ChCs), and ovarian cancers (OCs). The frequency of gene rearrangements was highest in KRAS/NRAS/BRAF wild-type CRCs. There was a higher frequency of translocations in CRC patients aged above 50 years, particularly in tumors with normal KRAS/NRAS/BRAF status.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
