Article
Oncology
Joana Lemos Garcia, Isadora Rosa, Sofia Saraiva, Ines Marques, Ricardo Fonseca, Pedro Lage, Ines Francisco, Patricia Silva, Bruno Filipe, Cristina Albuquerque, Isabel Claro
Summary: Recognition of hereditary colorectal cancer (CRC) syndrome is crucial, and Lynch Syndrome (LS) is the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC. An unicentric cohort study was conducted in a central Oncological Hospital to assess its results. Routine immunohistochemistry screening for MMR protein deficiency in CRC patients under 70 years-old identified Lynch Syndrome patients that could be missed using restrictive criteria. These results highlight the importance of universal CRC screening for MMR protein status.
Article
Oncology
Lin Dong, Shuangmei Zou, Xianglan Jin, Haizhen Lu, Ye Zhang, Lei Guo, Jianqiang Cai, Jianming Ying
Summary: This study identified rare cytoplasmic MSH2 staining in CRC patients, some of whom had LS with pathogenic mutations in MSH2 and/or EPCAM, including large genomic rearrangements. Analysis revealed novel RNA fusions and deletions of EPCAM and MSH2, originating from Alu repeat-mediated recombination events. Clinical evidence supported the beneficial effect of PD-1 inhibitor pembrolizumab in CRC patients with cytoplasmic MSH2 staining.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Guia Cerretelli, Ying Zhou, Mike F. Mueller, David J. Adams, Mark J. Arends
Summary: A study found that there is a gene-environment interaction between dMMR and acetaldehyde that accelerates colorectal tumor formation in Lynch syndrome model. Limiting alcohol consumption should be considered for LS patients.
JOURNAL OF PATHOLOGY
(2021)
Article
Oncology
Yun Xu, Cong Li, Charlie Zhi-Lin Zheng, Yu-Qin Zhang, Tian-An Guo, Fang-Qi Liu, Ye Xu
Summary: This study found that LS patients have better long-term survival prognosis than SCRC patients, even though the two groups have statistically comparable recurrence free survival. Combined chemotherapy is an effective treatment for LS patients who developed primary CRC recurrence.
Article
Oncology
Adam Solomon, Zoya Alteber, David Bassan, Adi Sharbi-Yunger, Simon Esbit, Esther Tzehoval, Lea Eisenbach
Summary: Lynch Syndrome is an autosomal dominant genetic condition that causes a high risk of colorectal cancer. A study using a mouse model found a novel tumor neo-antigen and demonstrated the effectiveness of an immune vaccine, which may have a protective effect for patients carrying LS mutations.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Review
Oncology
Noah C. Helderman, Sanne W. Bajwa-ten Broeke, Hans Morreau, Manon Suerink, Diantha Terlouw, Anne-Sophie van der Werf-' t Lam, Tom van Wezel, Maartje Nielsen
Summary: Lynch syndrome is a hereditary cancer syndrome caused by pathogenic variants in MMR genes. It shows heterogeneous clinical presentation possibly due to molecular profiles of cancer. The carcinogenesis process varies among different LS subgroups, which is crucial for optimizing guidelines for diagnosis, surveillance, and treatment.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Article
Cell Biology
Shaymaa Hegazy, Randall E. Brand, Beth Dudley, Eve Karloski, Rohit Bhargava, Esther Elishaev, Reetesh K. Pai
Summary: Research shows that MMR-deficient non-neoplastic endometrial glands are indicative of LS, with a pattern of contiguous large groups in the endometrium.
Article
Multidisciplinary Sciences
Yunbeom Lee, Ji Ae Lee, Hye Eun Park, Hyojun Han, Yuhnam Kim, Jeong Mo Bae, Jung Ho Kim, Nam-Yun Cho, Hwang-Phill Kim, Tae-You Kim, Gyeong Hoon Kang
Summary: A new computational method and microsatellite marker panels were developed to assess and detect microsatellite instability in CRC, which does not require paired normal tissues. It showed good sensitivity and specificity for different types of samples.
Review
Oncology
Romain Cohen, Raphael Colle, Thomas Pudlarz, Maximilien Heran, Alex Duval, Magali Svrcek, Thierry Andre
Summary: Microsatellite instability (MSI) is a tumor phenotype related to a deficient DNA mismatch repair system (dMMR). This phenotype, observed in 5% of metastatic mCRC but 10-18% of localized CRC, is associated with high tumor mutational burden with highly immunogenic neoantigens. It has emerged as a major predictive biomarker for the efficacy of ICIs.
Review
Oncology
Richard Gallon, Peter Gawthorpe, Rachel L. Phelps, Christine Hayes, Gillian M. Borthwick, Mauro Santibanez-Koref, Michael S. Jackson, John Burn
Summary: The article discusses international guidelines for the diagnosis of Lynch syndrome (LS), barriers and limitations, as well as new screening opportunities. It also proposes additional LS screening strategies.
Review
Gastroenterology & Hepatology
Ellis L. Eikenboom, Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Christi J. Van Asperen, Winand N. M. Dinjens, Robert M. W. Hofstra, Monique E. Van Leerdam, Hans Morreau, Manon C. W. Spaander, Anja Wagner, Maartje Nielsen
Summary: This study investigates the effectiveness and cost of immunohistochemistry testing in Lynch syndrome patients and their relatives. The proportion of MMRd and MMR germline PV is influenced by age, completeness, and type of diagnostics, and complete diagnostics can explain almost all MMRd CRC, contributing to optimizing testing and surveillance.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Charles Risbey, Timothy Fielder, Daniel Steffens, Joo-Shik Shin, Michael Solomon
Summary: The study aims to investigate the changes in MMR profiles from primary to recurrent CRC and assess the rates of MMR testing for primary and recurrent disease.
COLORECTAL DISEASE
(2023)
Review
Oncology
Cristina Mitric, Lina Salman, Lusine Abrahamyan, Soyoun Rachel Kim, Petros Pechlivanoglou, Kelvin K. W. Chan, Lilian T. Gien, Sarah E. Ferguson
Summary: The study investigates the prevalence of mismatch repair protein deficiency (MMRd), microsatellite instability (MSI), and Lynch syndrome (LS) in epithelial ovarian cancer (EOC) and their diagnostic accuracy. It also examines the prevalence of MMRd, MSI-high, and LS in synchronous ovarian endometrial cancer and in histological subtypes.
GYNECOLOGIC ONCOLOGY
(2023)
Review
Oncology
Xi Li, Guodong Liu, Wei Wu
Summary: Lynch syndrome is a common hereditary cancer syndrome characterized by mutations in DNA mismatch repair genes, with colorectal cancer and endometrial cancer being the most common types of cancer associated with this syndrome. Recent advancements have improved our understanding of the disease and have led to more efficient diagnostic and treatment strategies.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2021)
Article
Gastroenterology & Hepatology
C. Richard Boland, Minoru Koi, Mary T. Hawn, John M. Carethers, Matthew B. Yurgelun
Summary: The scientists in this study have witnessed the development of colorectal cancer research and the understanding of tumor pathogenesis, from early pathological descriptions to personalized therapies. These discoveries have led to a better understanding of the DNA mismatch repair system and the development of immune checkpoint inhibitors, which have transformed and cured certain types of cancers. The study also emphasizes the importance of careful experimentation, perseverance, and thinking outside established paradigms in scientific progress.
DIGESTIVE DISEASES AND SCIENCES
(2023)
Article
Nutrition & Dietetics
Sabrina E. Wang, Allison Hodge, S. Ghazaleh Dashti, Suzanne C. Dixon-Suen, Natalia Castano-Rodriguez, Robert Thomas, Graham Giles, Alex Boussioutas, Bradley Kendall, Dallas R. English
Summary: This study found that diet is a potential modifiable risk factor for Barrett's oesophagus (BE), the precursor of oesophageal adenocarcinoma. Higher intakes of leafy vegetables, fruit, dietary fiber, and carotenoids were inversely associated with BE risk, while higher intakes of discretionary food and total fat were positively associated with BE risk. No association was found for meat, protein, dairy products, or diet scores.
BRITISH JOURNAL OF NUTRITION
(2023)
Review
Cell Biology
Ian S. Brown, Anna Sokolova, Christophe Rosty, Rondell P. Graham
Summary: Cysts of the retrorectal space are a rare group of lesions, which can be of developmental or non-developmental origin. Tailgut cysts are the most common and display multiple epithelial types, while rectal duplication cysts show all layers of the large bowel wall. Non-developmental cysts are less common and often exhibit extensive cystic changes.
Article
Psychology, Social
Erin Tutty, Rowan Forbes Shepherd, Cass Hoskins, Rebecca Purvis, Mary Shanahan, Alex Boussioutas, Laura E. Forrest
Summary: This study explored the experiences of young people with hereditary diffuse gastric cancer (HDGC) as they navigate becoming and being a parent. The findings suggest that young people with HDGC face unique challenges in reproductive decision-making and parenting after undergoing gastrectomy.
JOURNAL OF PSYCHOSOCIAL ONCOLOGY
(2023)
Article
Oncology
Huichuan Yu, Xiaolin Wang, Liangliang Bai, Guannan Tang, Kelly T. Carter, Ji Cui, Pinzhu Huang, Li Liang, Yanqing Ding, Muyan Cai, Meijin Huang, Huanliang Liu, Guangwen Cao, Steven Gallinger, Rish K. Pai, Daniel D. Buchanan, Aung Ko Win, Polly A. Newcomb, Jianping Wang, William M. Grady, Yanxin Luo
Summary: This study demonstrated the prognostic significance of DNA methylation in early-stage colorectal cancer patients, with MePEC identifying an epigenetic subtype at high risk of recurrence and improving the prognostic accuracy of current clinical variables.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Medicine, Research & Experimental
Minhee L. Sung, Adam Viera, Denise Esserman, Guangyu Tong, Daniel Davidson, Sherry Aiudi, Genie L. Bailey, Ashley L. Buchanan, Marianne Buchelli, Mark Jenkins, Betsey John, Jennifer Kolakowski, Albana Lame, Sean M. Murphy, Elizabeth Porter, Laura Simone, Manuel Paris, Carla J. Rash, E. Jennifer Edelman
Summary: This study introduces a new research called CoMPASS, which aims to promote HIV risk reduction among persons who inject drugs (PWID). It is a hybrid type 1 effectiveness-implementation trial that utilizes rewards and ongoing support to encourage PWID to use HIV preexposure prophylaxis (PrEP). Trained PrEP navigators deliver interventions, including PrEP and other relevant treatments. The primary outcome is sustained PrEP adherence at 24 weeks. The results of this study will provide insights into the feasibility and impact of implementing CoMPASS in community-based organizations.
CONTEMPORARY CLINICAL TRIALS
(2023)
Article
Gastroenterology & Hepatology
Tomotaka Ugai, Naohiko Akimoto, Koichiro Haruki, Tabitha A. Harrison, Yin Cao, Conghui Qu, Andrew T. Chan, Peter T. Campbell, Sonja Berndt, Daniel D. Buchanan, Amanda J. Cross, Brenda Diergaarde, Steven J. Gallinger, Marc J. Gunter, Sophia Harlid, Akihisa Hidaka, Michael Hoffmeister, Hermann Brenner, Jenny Chang-Claude, Li Hsu, Mark A. Jenkins, Yi Lin, Roger L. Milne, Victor Moreno, Polly A. Newcomb, Reiko Nishihara, Mireia Obon-Santacana, Rish K. Pai, Lori C. Sakoda, Robert E. Schoen, Martha L. Slattery, Wei Sun, Efrat L. Amitay, Elizabeth Alwers, Stephen N. Thibodeau, Amanda E. Toland, Bethany Van Guelpen, Syed H. Zaidi, John D. Potter, Jeffrey A. Meyerhardt, Marios Giannakis, Mingyang Song, Jonathan A. Nowak, Ulrike Peters, Amanda Phipps, Shuji Ogino
Summary: This study analyzed 13,101 colorectal cancer cases and found a significant association between tumor location and molecular features. The detailed colonic location and tumor molecular features play an important role in the prognostication and precision medicine of colon cancer.
JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Oncology
Pierre-Antoine Dugue, Chenglong Yu, Allison M. M. Hodge, Ee Ming Wong, JiHoon E. E. Joo, Chol-Hee Jung, Daniel Schmidt, Enes Makalic, Daniel D. D. Buchanan, Gianluca Severi, Dallas R. R. English, John L. L. Hopper, Roger L. L. Milne, Graham G. G. Giles, Melissa C. C. Southey
Summary: Methylation marks can be useful markers of cancer risk, capturing current and past exposures better than questionnaires and reflecting individual responses to exposure. This study used data from case-control studies to examine the association between blood DNA methylation and risk of various cancers. Methylation scores for smoking, BMI, and alcohol consumption were calculated and found to have independent associations with cancer risk, providing some improvements in risk prediction.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Review
Genetics & Heredity
Fiona Jane Bruinsma, James G. Dowty, Aung Ko Win, Laura C. Goddard, Prachi Agrawal, Domenico Attina', Nabil Bissada, Monica De Luise, Daniel B. Eisen, Mitsuko Furuya, Giuseppe Gasparre, Maurizio Genuardi, Anne-Marie Gerdes, Thomas Van Overeem Hansen, Arjan C. Houweling, Paul Christiaan Johannesma, Andre Lencastre, Derek Lim, Noralane M. Lindor, Valentina Luzzi, Maeve Lynch, Antonella Maffe, Fred H. Menko, Guido Michels, Jose S. Pulido, Ryu H. Jay, Elke C. Sattler, Ortrud K. Steinlein, Sara Tomassetti, Kathy Tucker, Daniela Turchetti, Irma van de Beek, Lore van Riel, Maurice van Steensel, Thierry Zenone, Maurizo Zompatori, Jennifer Walsh, Davide Bondavalli, Eamonn R. Maher, Ingrid M. Winship
Summary: BHD syndrome is a rare genetic syndrome caused by FLCN gene variants, which can increase the risk of various manifestations including fibrofolliculomas, pulmonary cysts, pneumothorax, and renal cell carcinoma. This study provides updated penetrance estimates based on a large dataset, which are crucial for the genetic counseling and clinical management of BHD syndrome.
JOURNAL OF MEDICAL GENETICS
(2023)
Correction
Genetics & Heredity
Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Diez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Broderick, James Studd, Jeroen Huyghe, Tabitha Harrison, David Conti, Christopher Dampier, Mathew Devall, Fredrick Schumacher, Marilena Melas, Gad Rennert, Mireia Obon-Santacana, Vicente Martin-Sanchez, Ferran Moratalla-Navarro, Jae Hwan Oh, Jeongseon Kim, Sun Ha Jee, Keum Ji Jung, Sun-Seog Kweon, Min-Ho Shin, Aesun Shin, Yoon-Ok Ahn, Dong-Hyun Kim, Isao Oze, Wanqing Wen, Keitaro Matsuo, Koichi Matsuda, Chizu Tanikawa, Zefang Ren, Yu-Tang Gao, Wei-Hua Jia, John Hopper, Mark Jenkins, Aung Ko Win, Rish Pai, Jane Figueiredo, Robert Haile, Steven Gallinger, Michael Woods, Polly Newcomb, David Duggan, Jeremy Cheadle, Richard Kaplan, Timothy Maughan, Rachel Kerr, David Kerr, Iva Kirac, Jan Bohm, Lukka-Pekka Mecklin, Pekka Jousilahti, Paul Knekt, Lauri Aaltonen, Harri Rissanen, Eero Pukkala, Johan Eriksson, Tatiana Cajuso, Ulrika Hanninen, Johanna Kondelin, Kimmo Palin, Tomas Tanskanen, Laura Renkonen-Sinisalo, Brent Zanke, Satu Mannisto, Demetrius Albanes, Stephanie Weinstein, Edward Ruiz-Narvaez, Julie Palmer, Daniel Buchanan, Elizabeth Platz, Kala Visvanathan, Cornelia Ulrich, Erin Siegel, Stefanie Brezina, Andrea Gsur, Peter Campbell, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Martha Slattery, John Potter, Konstantinos Tsilidis, Matthias Schulze, Marc Gunter, Neil Murphy, Antoni Castells, Sergi Castellvi-Bel, Leticia Moreira, Volker Arndt, Anna Shcherbina, Mariana Stern, Bens Pardamean, Timothy Bishop, Graham Giles, Melissa Southey, Gregory Idos, Kevin McDonnell, Zomoroda Abu-Ful, Joel Greenson, Katerina Shulman, Flavio Lejbkowicz, Kenneth Offit, Yu-Ru Su, Robert Steinfelder, Temitope Keku, Bethany van Guelpen, Thomas Hudson, Heather Hampel, Rachel Pearlman, Sonja Berndt, Richard Hayes, Marie Elena Martinez, Sushma Thomas, Douglas Corley, Paul Pharoah, Susanna Larsson, Yun Yen, Heinz-Josef Lenz, Emily White, Li Li, Kimberly Doheny, Elizabeth Pugh, Tameka Shelford, Andrew Chan, Marcia Cruz-Correa, Annika Lindblom, David Hunter, Amit Joshi, Clemens Schafmayer, Peter Scacheri, Anshul Kundaje, Deborah Nickerson, Robert Schoen, Jochen Hampe, Zsofia Stadler, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Nickolas Papadopoulos, Chistopher Edlund, William Gauderman, Duncan Thomas, David Shibata, Amanda Toland, Sanford Markowitz, Andre Kim, Stephen Chanock, Franzel van Duijnhoven, Edith Feskens, Lori Sakoda, Manuela Gago-Dominguez, Alicja Wolk, Alessio Naccarati, Barbara Pardini, Liesel FitzGerald, Soo Chin Lee, Shuji Ogino, Stephanie Bien, Charles Kooperberg, Christopher Li, Yi Lin, Ross Prentice, Conghui Qu, Stephane Bezieau, Catherine Tangen, Elaine Mardis, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Christopher Haiman, Loic Le Marchand, Anna Wu, Chenxu Qu, Caroline McNeil, Gerhard Coetzee, Caroline Hayward, Ian Deary, Sarah Harris, Evropi Theodoratou, Stuart Reid, Marion Walker, Li Yin Ooi, Victor Moreno, Graham Casey, Stephen Gruber, Ian Tomlinson, Wei Zheng, Malcolm Dunlop, Richard Houlston, Ulrike Peters
Article
Oncology
John Lai, Chi Kuen Wong, Daniel F. Schmidt, Miroslaw K. Kapuscinski, Karen Alpen, Robert J. Macinnis, Daniel D. Buchanan, Aung K. Win, Jane C. Figueiredo, Andrew T. Chan, Tabitha A. Harrison, Michael Hoffmeister, Emily White, Loic Le Marchand, Rish K. Pai, Ulrike Peters, John L. Hopper, Mark A. Jenkins, Enes Makalic
Summary: The DEPTH analysis method can be used to identify candidate susceptibility regions for colorectal cancer, and it has identified regions that conventional analyses cannot detect in larger datasets. DEPTH identified many new candidate susceptibility regions in the CCFR and GECCO studies, and it found four reproducible regions.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Oncology
Andrei-Emil Constantinescu, Caroline J. Bull, Nicholas Jones, Ruth Mitchell, Kimberley Burrows, Niki Dimou, Stephane Bezieau, Hermann Brenner, Daniel D. Buchanan, Mauro D'Amato, Mark A. Jenkins, Victor Moreno, Rish K. Pai, Caroline Y. Um, Emily White, Neil Murphy, Marc Gunter, Nicholas J. Timpson, Jeroen R. Huyghe, Emma E. Vincent
Summary: Observational studies have shown that eosinophils may protect against colorectal cancer (CRC) development, while neutrophils may be implicated in its risk. This study used Mendelian randomisation (MR) to estimate the causal effect of circulating white blood cell (WBC) counts, specifically basophils, eosinophils, monocytes, lymphocytes, and neutrophils, on CRC risk. The results suggest that increased basophil and eosinophil counts are protective against CRC, and increased lymphocyte count may also have a protective effect.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Letter
Oncology
Pierre-Antoine Dugue, Chenglong Yu, Allison M. M. Hodge, Ee Ming Wong, JiHoon E. E. Joo, Chol-Hee Jung, Daniel Schmidt, Enes Makalic, Daniel D. D. Buchanan, Gianluca Severi, Dallas R. R. English, John L. L. Hopper, Roger L. L. Milne, Graham G. G. Giles, Melissa C. C. Southey
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Oncology
Nina Afshar, S. Ghazaleh Dashti, Victoria Mar, Luc te Marvelde, Sue Evans, Roger L. Milne, Dallas R. English
Summary: Women diagnosed with melanoma have better survival rates than men, and factors such as tumor thickness and tumor site play a significant role in reducing the survival gap between genders.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Oncology
Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Mar Fan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, ANGELS Study
Summary: This study examined the effectiveness of Lynch syndrome-specific tumor features in classifying MMR gene variants of uncertain clinical significance. The findings confirmed that identifying these features can improve the classification of MMR variants and enable optimal clinical care.
Letter
Gastroenterology & Hepatology
Khalid Mahmood, Minta Thomas, Conghui Qu, Li Hsu, Daniel D. Buchanan, Ulrike Peters