Article
Oncology
Ellis L. Eikenboom, Helena C. van Doorn, Winand N. M. Dinjens, Hendrikus J. Dubbink, Willemina R. R. Geurts-Giele, Manon C. W. Spaander, Carli M. J. Tops, Anja Wagner, Anne Goverde
Summary: In this study, outcomes of gynecological surveillance and risk-reducing surgery in 164 Lynch syndrome carriers were assessed, revealing variability in surveillance timing and questioning the benefits of surveillance for endometrial cancers found in early stage.
Article
Clinical Neurology
Rui Ryan Yang, Kay Ka-Wai Li, Zhen-Yu Zhang, Aden Ka-Yin Chan, Wei-Wei Wang, Danny Tat-Ming Chan, Wen-Cai Li, Xian-Zhi Liu, Fang-Cheng Li, Hong Chen, Ho-Keung Ng, Ying Mao, Zhi-Feng Shi
Summary: The diagnostic role of Isocitrate Dehydrogenase (IDH) mutation status in adult lower grade astrocytomas is significant, potentially further stratified by MMR genes. Our study suggests the potential clinical relevance of MMR genes in IDH-mutant lower grade astrocytomas without certain genetic alterations like PDGFRA, CDK4, and CDKN2A.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2021)
Review
Oncology
Katarina D. Andini, Maartje Nielsen, Manon Suerink, Noah C. Helderman, Jan Jacob Koornstra, Aysel Ahadova, Matthias Kloor, Marian J. E. Mourits, Klaas Kok, Rolf H. Sijmons, Sanne W. Bajwa-ten Broeke
Summary: Carriers of pathogenic variants in MMR genes have different risks and cancer spectrums depending on which specific MMR gene is affected. PMS2-deficient CRCs show more aggressive behavior and worse prognosis, suggesting they may have more similarities with sporadic MMR-proficient CRCs. These findings have implications for surveillance, chemoprevention, and therapeutic strategies.
FRONTIERS IN ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Marilyn Huang, Tegan Hunter, Lydia A. Fein, Johnny Galli, Sophia George, Matthew Schlumbrecht, Kelly McCarter, Abdulrahman K. Sinno, Luiz P. Guido, Andre Pinto
Summary: The study found that the prevalence of Lynch Syndrome in endometrial cancer among minority women is similar to previous reports. LS may be underestimated and opportunities missed when universal screening is not applied in minority women.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Zachary P. Schwartz, Andrew J. Li, Christine S. Walsh, B. J. Rimel, Monica M. Alvarado, Scott E. Lentz, Ilana Cass
Summary: This study aimed to investigate the practice patterns and frequency of occult gynecologic cancers in women with pathogenic variants of non-BRCA and Lynch syndrome-associated ovarian cancer susceptibility genes who underwent risk-reducing bilateral salpingo-oophorectomy (RRSO). The results showed no cases of occult ovarian or fallopian tube cancer in both groups, but 2 patients (3%) in the Lynch group had occult endometrial cancer. The use of hormone replacement therapy (HRT) was rare despite reported menopausal symptoms.
GYNECOLOGIC ONCOLOGY
(2023)
Article
Oncology
Ibrahim Halil Sahin, Subir Goyal, Yoanna Pumpalova, Mohamad B. Sonbol, Satya Das, Sigurdis Haraldsdottir, Daniel Ahn, Kristen K. Ciombor, Zhengjia Chen, Amber Draper, Jordan Berlin, Tanios Bekaii-Saab, Gregory B. Lesinski, Bassel F. El-Rayes, Christina Wu
Summary: Liver metastasis, MLH1/PMS2 loss, BRAF V600E mutation, and age over 65 may predict the duration of response to immune checkpoint inhibitors in patients with MMR-D CRC.
Article
Biochemistry & Molecular Biology
Alejandra Padua-Bracho, Jose A. Velazquez-Aragon, Veronica Fragoso-Ontiveros, Paulina Maria Nunez-Martinez, Maria de la Luz Mejia Aguayo, Yuliana Sanchez-Contreras, Miguel Angel Ramirez-Otero, Marcela Angelica De la Fuente-Hernandez, Silvia Vidal-Millan, Talia Wegman-Ostrosky, Abraham Pedroza-Torres, Cristian Arriaga-Canon, Luis A. Herrera-Montalvo, Rosa Maria Alvarez-Gomez
Summary: This study describes the clinical and molecular spectrum of Lynch syndrome (LS) patients in Mexico. Among a cohort of patients, approximately 28% had variants in mismatch repair (MMR) genes, 30% had variants in non-MMR genes, and 42% had no genetic variants. The majority of variants were found in the MLH1 gene. Molecular and clinical characterization of LS patients in specific populations allows personalized follow-up and the development of public health policies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Chemistry, Analytical
Damaris-Cristina Gheorghe, Raluca-Ioana Stefan-van Staden, Florina Pogacean, Stela Pruneanu
Summary: Two stochastic sensors modified with maltodextrin-doped graphene were successfully developed for the molecular identification and quantification of MLH1, MSH2, MSH6, PMS2, and KRAS in biological samples. These sensors exhibit extremely low limits of determination and wide linear concentration ranges, allowing for the accurate detection and quantification of target molecules in healthy individuals and cancer patients. The recoveries of the target molecules in different biological samples exceeded 98% with high precision.
Article
Medicine, General & Internal
Mev Dominguez-Valentin, Saskia Haupt, Toni T. Seppaelae, Julian R. Sampson, Lone Sunde, Inge Bernstein, Mark A. Jenkins, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Francesc Balaguer, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Tadeusz Debniak, Robert Fruscio, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Lor H. Katz, Ido Laish, Elez Vainer, Carlos Vaccaro, Dirce Maria Carraro, Kevin Monahan, Elizabeth Half, Aine Stakelum, Des Winter, Rory Kennelly, Nathan Gluck, Harsh Sheth, Naim Abu-Freha, Marc Greenblatt, Benedito Mauro Rossi, Mabel Bohorquez, Giulia Martina Cavestro, Leonardo S. Lino-Silva, Karoline Horisberger, Maria Grazia Tibiletti, Ivana do Nascimento, Huw Thomas, Norma Teresa Rossi, Leandro Apolinario da Silva, Attila Zarand, Juan Ruiz-Banobre, Vincent Heuveline, Jukka-Pekka Mecklin, Kirsi Pylvaenaeinen, Laura Renkonen-Sinisalo, Anna Lepistoe, Paeivi Peltomaeki, Christina Therkildsen, Mia Gebauer Madsen, Stefan Kobbelgaard Burgdorf, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane Lindor, Steven Gallinge, Loic Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Evelin Schroeck, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hueneburg, Silke Redler, Reinhard Buettner, Jurgen Weitz, Marta Pineda, Nuria Duenas, Joan Brunet Vidal, Leticia Moreira, Ariadna Sanchez, Eivind Hovig, Sigve Nakken, Kate Green, Fiona Lalloo, James Hill, Emma Crosbie, Miriam Mints, Yael Goldberg, Douglas Tjandra, Sanne W. ten Broeke, Revital Kariv, Guy Rosner, Suresh H. Advani, Lidiya Thomas, Pankaj Shah, Mithun Shah, Florencia Neffa, Patricia Esperon, Walter Pavicic, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Alejandra Martin, Gabriela Moslein, Pal Moller
Summary: This study used the latest PLSD cohort to investigate the mortality rates and age of cancer diagnoses in carriers of pathogenic MMR variants. The results showed that non-colorectal Lynch syndrome cancers caused more deaths than colorectal cancers in these carriers. Reducing deaths from non-colorectal cancers is a crucial challenge for the medical care of Lynch syndrome.
Article
Multidisciplinary Sciences
Abram Bunya Kamiza, Wen-Chang Wang, Jeng-Fu You, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Chao A. Hsiung, Chih-Ching Yeh
Summary: This study estimated the cumulative risks of CRC in Han Chinese patients with Lynch syndrome caused by MLH1 or MSH2 mutations in Taiwan, showing that male mutation carriers have a higher risk of developing CRC by the age of 70 compared to female mutation carriers.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Toni T. Seppala, Mev Dominguez-Valentin, Emma J. Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Eivind Hovig, Maartje Nielsen, Rolf H. Sijmons, Lucio Bertario, Bernardo Bonanni, Maria G. Tibiletti, Giulia M. Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Kate Green, Fiona Lalloo, James Hill, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Hans-Georg Strauss, Johanna Tecklenburg, Elke Holinski-Feder, Verena Steinke-Lange, Jukka-Pekka Mecklin, John-Paul Plazzer, Marta Pineda, Matilde Navarro, Joan B. Vida, Revital Kariv, Guy Rosner, Tamara A. Pinero, Walter Pavicic, Pablo Kalfayan, Sanne W. Ten Broeke, Mark A. Jenkins, Lone Sunde, Inge Bernstein, John Burn, Marc Greenblatt, Wouter H. de Vos Tot Nederveen Cappel, Adriana Della Valle, Francisco Lopez-Koestner, Karin Alvarez, Reinhard Buettner, Heike Goergens, Monika Morak, Stefanie Holzapfel, Robert Hueneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Silke Redler, Jurgen Weitz, Kirsi Pylvaenaeinen, Laura Renkonen-Sinisalo, Anna Lepisto, John L. Hopper, Aung K. Win, Noralane M. Lindor, Steven Gallinger, Loic Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Karin A. W. Wadt, Marian J. E. Mourits, Zohreh Ketabi, Oliver G. Denton, Einar A. Rodland, Hans Vasen, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Moeslein, Erik Rokkones, Julian R. Sampson, D. G. Evans, Pal Moller
Summary: The uptake of risk-reducing surgery before the age of 50 was low among carriers of pathogenic MMR variants, and these surgeries were rarely performed in conjunction with colorectal cancer surgery. The alignment of risk-reducing surgery uptake with gene-and age-associated risk estimates for endometrial or ovarian cancer was poor, highlighting a need for better decision-making processes in opting for or against risk-reducing surgery.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Medical Laboratory Technology
Ashley Scheiderer, Courtney Riedinger, Kristopher Kimball, Larry Kilgore, Amila Orucevic
Summary: This study found that Lynch syndrome germline mutation can be detected in endometrial carcinoma patients whose tumors display sole subclonal mismatch repair protein staining. The results emphasize the importance of reporting subclonal staining patterns to ensure appropriate clinical follow-up.
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Ariadna Sanchez, Victorine H. Roos, Matilde Navarro, Marta Pineda, Berta Caballol, Lorena Moreno, Sabela Carballal, Lorena Rodriguez-Alonso, Teresa Ramon Y. Cajal, Gemma Llort, Virginia Pinol, Adria Lopez-Fernandez, Inmaculada Salces, Maria Dolores Pico, Laura Rivas, Luis Bujanda, Marta Garzon, Angeles Pizarro, Eva Martinez de Castro, Maria Jesus Lopez-Arias, Carmen Poves, Catalina Garau, Daniel Rodriguez-Alcalde, Maite Herraiz, Cristina Alvarez-Urrutia, Andres Dacal, Marta Carrillo-Palau, Lucia Cid, Marta Ponce, Eva Barreiro-Alonso, Esteban Saperas, Elena Aguirre, Cristina Romero, Barbara Bastiaansen, Maribel Gonzalez-Acosta, Blai Morales-Romero, Teresa Ocana, Liseth Rivero-Sanchez, Gerhard Jung, Xavier Bessa, Joaquin Cubiella, Rodrigo Jover, Francisco Rodriguez-Moranta, Judith Balmana, Joan Brunet, Antoni Castells, Evelien Dekker, Gabriel Capella, Miquel Serra-Burriel, Leticia Moreira, Maria Pellise, Francesc Balaguer
Summary: The study suggests that in LS carriers, complete colonoscopies with adequate bowel preparation and chromoendoscopy use improve adenoma detection, while surveillance intervals of less than 3 years are associated with a reduction in PCCRC incidence. High-quality colonoscopy surveillance is crucial for preventing CRC in LS.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Obstetrics & Gynecology
Brett Kurpiel, Martha S. Thomas, Mansoor Mubeen, Kari L. Ring, Susan C. Modesitt, Christopher A. Moskaluk, Anne M. Mills
Summary: MLH1 hypermethylation is the most common cause of mismatch repair deficiency in endometrial carcinoma, but somatic and germline mutations in MLH1 can also occur. Some patients with hypermethylated tumors may also have germline variants of unknown significance in other mismatch repair genes and genes involved in hereditary cancer syndromes, but their clinical relevance is unclear.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
(2022)
Article
Obstetrics & Gynecology
Brett Kurpiel, Martha S. Thomas, Mansoor Mubeen, Kari L. Ring, Susan C. Modesitt, Christopher A. Moskaluk, Anne M. Mills
Summary: Epigenetic hypermethylation of the MLH1 promoter is the most common cause of mismatch repair deficiency in endometrial carcinoma. MLH1 hypermethylation accounts for the vast majority of MLH1/PMS2-deficient cancers, but somatic and germline mutations can also occur.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
(2022)
Article
Genetics & Heredity
Qian Jiang, Stacey Arnold, Tiffany Heanue, Krishna Praneeth Kilambi, Betty Doan, Ashish Kapoor, Albee Yun Ling, Maria X. Sosa, Moltu Guy, Qingguang Jiang, Grzegorz Burzynski, Kristen West, Seneca Bessling, Paola Griseri, Jeanne Amiel, Raquel M. Fernandez, Joke B. G. M. Verheij, Robert M. W. Hofstra, Salud Borrego, Stanislas Lyonnet, Isabella Ceccherini, Jeffrey J. Gray, Vassilis Pachnis, Andrew S. McCallion, Aravinda Chakravarti
AMERICAN JOURNAL OF HUMAN GENETICS
(2015)
Review
Endocrinology & Metabolism
Thera P. Links, Hans H. G. Verbeek, Robert M. W. Hofstra, John Th M. Plukker
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2015)
Article
Cardiac & Cardiovascular Systems
Aida M. Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M. A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha A. Myers, Steven Laga, Alexander J. Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, Robert M. van der Helm, Berna Beverloo, Annelies de Klein, Luba Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Bruggenwirth, Frans Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert Hofstra, Marie Jose Goumans, Jos A. Bekkers, Jolien W. Roos-Hesselink, Ingrid M. B. H. van de laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart L. Loeys
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2015)
Article
Developmental Biology
Charlotte H. W. Wijers, Ivo de Blaauw, Nadine Zwink, Markus Draaken, Loes F. M. van der Zanden, Han G. Brunner, Alice S. Brooks, Robert M. Hofstra, Cornelius E. J. Sloots, Paul M. A. Broens, Marc H. Wijnen, Michael Ludwig, Ekkehart Jenetzky, Heiko Reutter, Carlo L. M. Marcelis, Nel Roeleveld, Iris A. L. M. van Rooij
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
(2014)
Article
Cardiac & Cardiovascular Systems
Nicole Corsten-Janssen, Wilhelmina S. Kerstjens-Frederikse, Gideon J. du Marchie Sarvaas, Maria E. Baardman, Marian K. Bakker, Jorieke E. H. Bergman, Hanne D. Hove, Ketil R. Heimdal, Cecilie F. Rustad, Raoul C. M. Hennekam, Robert M. W. Hofstra, Lies H. Hoefsloot, Conny M. A. Van Ravenswaaij-Arts, Livia Kapusta
CIRCULATION-CARDIOVASCULAR GENETICS
(2013)
Review
Genetics & Heredity
A. M. Goldstein, R. M. W. Hofstra, A. J. Burns
Biographical-Item
Biochemistry & Molecular Biology
Rolf H. Sijmons, Gerard J. te Meerman, Robert M. W. Hofstra
EUROPEAN JOURNAL OF HUMAN GENETICS
(2014)
Article
Genetics & Heredity
Ana M. Ferreira, Iina Tuominen, Sonia Sousa, Frans Gerbens, Krista van Dijk-Bos, Jan Osinga, Krista A. Kooi, Bahram Sanjabi, Chris Esendam, Carla Oliveira, Peter Terpstra, Menno Hardonk, Tineke van der Sluis, Monika Zazula, Jerzy Stachura, Ate G. van der Zee, Harry Hollema, Rolf H. Sijmons, Lauri A. Aaltonen, Raquel Seruca, Robert M. W. Hofstra, Helga Westers
Article
Genetics & Heredity
Ana M. Ferreira, Iina Tuominen, Krista van Dijk-Bos, Bahram Sanjabi, Tineke van der Sluis, Ate G. van der Zee, Harry Hollema, Monika Zazula, Rolf H. Sijmons, Lauri A. Aaltonen, Helga Westers, Robert M. W. Hofstra
Letter
Oncology
Ben Kinersley, Stephan Buch, Sergi Castelvi-Bel, Susan Mary Farington, Asta Forsti, Jochen Hampe, Kari Heminki, Robert M. W. Hofstra, Emma Northwood, Claire Pales, Manuela Pinheiro, Clara Ruiz-Ponte, Clemens Schafmayer, Manuel R. Teixeira, Helga Westers, Tom Van Wezel, D. Timothy Bishop, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2014)
Article
Genetics & Heredity
Bryony A. Thompson, Amanda B. Spurdle, John-Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capella, Johan T. den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P. Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frebourg, David E. Goldgar, Christopher D. Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, Kristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J. Scott, Rolf Sijmons, Sean V. Tavtigian, Carli M. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi
Article
Genetics & Heredity
Raquel M. Fernandez, Marta Bleda, Berta Luzon-Toro, Luz Garcia-Alonso, Stacey Arnold, Yunia Sribudiani, Claude Besmond, Francesca Lantieri, Betty Doan, Isabella Ceccherini, Stanislas Lyonnet, Robert M. W. Hofstra, Aravinda Chakravarti, Guillermo Antinolo, Joaquin Dopazo, Salud Borrego
ORPHANET JOURNAL OF RARE DISEASES
(2013)
Article
Multidisciplinary Sciences
Christine S. van der Werf, Nai-Hua Hsiao, Siobhan Conroy, Joana Paredes, Ana S. Ribeiro, Yunia Sribudiani, Raquel Seruca, Robert M. W. Hofstra, Helga Westers, Sven C. D. van IJzendoorn
Article
Multidisciplinary Sciences
Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M. W. Hofstra, Arnold Munnich, Nadege Bondurand, Aravinda Chakravarti, Francoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Article
Multidisciplinary Sciences
Anna Abuli, Luis Bujanda, Jenifer Munoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocana, Josep M. Pique, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M. Xicola, Xavier Llor, Antoni Castells, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellvi-Bel