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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts [PDF]

, 2013
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
Sampson, JR, Capella, G., Moeslein, Gabriela, Moslein, G., Vasen, Hans F. A., Sijmons RH, Renkonen-Sinisalo, L, Genuardi, M, Engel, C., Leon, M., Møller P, Gopie, JP, Bertario, Lucio, Alonso A, Heinimann, K, Genuardi, M., Tejpar, S, Burn J, Rahner, N, Engel, Christoph, PONZ DE LEON, Maurizio, Alonso, A, Wijnen, J.T., Burn, John, Lindblom, Annika, Heinimann, Karl, Lindblom, A, Tejpar, Sabine, Vasen HF, Bertario L, Leon, M.P. de, Thomas HJ, Maurizio Genuardi., Nagengast, FM, Gopie JP, Myrhoj, T., Bernstein I, Hes, Frederik J., Stormorken, Astrid, Myrhoj, Torben, Aktan-Collan, Katja, Wijnen JT, Alonso, A., Tejpar, S., Hodgson, SV, Nagengast, Fokko M., Aretz, S., Vasen, H.F., Myrhoj T, Stormorken A, Moller, P., Engel C, Järvinen HJ, Sampson, Julian R., Karagiannis, JA, Mecklin, JP, Lalloo, F., Engel, C, Capella, G, Bernstein, I., Hodgson SV, Lindblom A, Bertario, L, Jaervinen, Heikki Juhani, Gopie, Jessica P., Karagiannis, John A., Burn, J, Karagiannis JA, Frayling, I.M., Sijmons, Rolf H., Sampson JR, Rahner, N., Ponz de Leon, M, Blanco, I, Aktan Collan K, Møller, P, Hes FJ, Aktan-Collan, K, Blanco, I., Genuardi, Maurizio, Aretz, Stefan, Vasen, HF, Blanco, Ignacio, Nagengast, F.M., Thomas, Huw J. W., Stormorken, A, Lindblom, A., Gopie, J.P., Bertario, L., Moller, Pal, Thomas, H.J.W., Lalloo, Fiona, Rahner N, Renkonen-Sinisalo, Laura, Wijnen, Juul T., Alonso, Angel, Sampson, Julian Roy, Bernstein, Inge, Sijmons, RH, Capella, Gabriel, Mallorca Grp, Jarvinen, H.J., Myrhoj, T, Hes, FJ, Aretz S, Järvinen, HJ, Wijnen, JT, Mallorca group, Vasen, H.F.A., Parc Y, Karagiannis, J.A., Bernstein, I, Hodgson, Shirley V., Rahner, Nils, et al., Parc, Y., Sampson, J.R., Aretz, S, Thomas, H.J., Frayling, Ian M., Capella G, Nagengast FM, Colas, C., Renkonen-Sinisalo, L., Tejpar S, Frayling, IM, Hes, F.J., Renkonen Sinisalo L, Frayling IM, Parc, Y, Mecklin, Jukka-Pekka, Möslein G., de Leon, Maurizio Ponz, Lalloo F, Blanco I, Möslein, G, Hodgson, S.V., Lalloo, F, Heinimann, K., Mecklin, J.P., Colas, C, Thomas, HJ, Colas, Chrystelle, Frayling, Ian Martin, Parc, Yann, Heinimann K, Burn, J., Sijmons, R.H., Stormorken, A., Genuardi M, de Leon, M.P., Colas C, Mecklin JP, Aktan-Collan, K., Vasen, HFA   +154 more
core   +2 more sources

Urinary and Faecal Amino‐Acids as Biomarkers for Colorectal Neoplasia in Lynch Syndrome—A Prospective Longitudinal Study

International Journal of Cancer, EarlyView.
ABSTRACT In Lynch syndrome, colonoscopy surveillance for colorectal cancer (CRC) is burdensome and post‐colonoscopy CRCs still occur. Unlike the faecal immunochemical test (FIT), gut metabolomic alterations including amino‐acids have shown potential as non‐invasive biomarkers for detecting both advanced and non‐advanced sporadic colorectal neoplasia ...
Roza C. M. Opperman, Elsa L. S. A. van Liere, Animesh Acharjee, Sudip Mondal, Eduard A. Struys, Andreas Antoniadis, Jasmijn E. B. de Boer, Shivra R. Siriram, Abdellatif Bakkali, Sofie Bosch, Maarten A. J. M. Jacobs, Jan Jacob Koornstra, Johan P. Kuijvenhoven, Monique E. van Leerdam, Manon C. W. Spaander, Tim G. J. de Meij, Evelien Dekker, Dewkoemar Ramsoekh, Nanne K. H. de Boer   +18 more
wiley   +1 more source

Supp Fig S4 from MSH2 Loss in Primary Prostate Cancer

, 2017
MSH2/6 immunostains in a formalin fixed and paraffin embedded primary prostate tumor with single copy MSH2 loss by sequencing. Standard tissue section of tumor with apparent single copy somatic gene inactivation of MSH2 (MSH2 c. 1728del), showing loss of
William B. Isaacs (80210), Fawaz Almutairi (6718736), Mario A. Eisenberger (14997317), Jonathan I. Epstein (14317593), James R. Eshleman (14989454), Liana B. Guedes (15001544), Emmanuel S. Antonarakis (12643308), Colin C. Pritchard (14988971), Nooshin Mirkheshti (15003480), Jessica Hicks (252563), Tamara L. Lotan (14917692), Michael T. Schweizer (5328647), Jong Chul Park (15002381), Angelo M. De Marzo (11054067), Stephanie Glavaris (843058)   +14 more
core   +1 more source

Impact of ovarian preservation on survival for premenopausal women with early‐stage endometrial carcinoma: A systematic review and meta‐analysis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Up to 14% of women with early‐stage endometrial carcinoma (EEC) are diagnosed before menopause. Although ovarian preservation (OP) within surgical staging might avoid surgical menopause, its rate remains low in clinical practice, probably because the impact of OP on survival outcomes is unclear.
Antonio Raffone, Diego Raimondo, Daniele Neola, Manuela Maletta, Marisol Doglioli, Antonio Travaglino, Carlo Ronsini, Maria Giovanna Vastarella, Stefano Ferla, Francesco Cosentino, Pasquale De Franciscis, Renato Seracchioli, Luigi Cobellis   +12 more
wiley   +1 more source

Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations

, 1994
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in genes such as hMSH2 and bMLH1, which encode components of a DNA mismatch repair system.
Finan, Paul J., Kolodner, Richard D., Lipford, James, Morrison, Paul, Timothy Bishop, D., Merchant, Elizabeth, Kane, Michael F., Burn, John, Chapman, Pamela, Hall, Nigel R., Wirth, Lori, Earabino, Christene, Rao, M. R. S.   +12 more
core   +1 more source

Pancreatic cancer ‘mismatch’ in Lynch syndrome

BMJ Open Gastroenterology, 2019
ObjectiveImmune therapy with the PD1 inhibitor pembrolizumab has been approved to treat unresectable/metastatic solid tumours exhibiting mismatch repair (MMR) deficiency. Lynch syndrome (LS), caused by autosomal dominant germline mutations of a MMR gene,
Andrew E Hendifar, Brent K Larson, Rebecca Rojansky, Michelle Guan, Jun Gong, Veronica Placencio, Richard Tuli, Megan Hitchins   +7 more
doaj   +1 more source

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

Hereditary Cancer in Clinical Practice, 2019
Background Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC ...
Muhammad Usman Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Jan Lubiński, Anna Jakubowska, Muhammed Aasim Yusuf   +6 more
doaj   +1 more source

Association of MSH2 Expression With Tumor Mutational Burden and the Immune Microenvironment in Lung Adenocarcinoma

Frontiers in Oncology, 2020
Immune checkpoint blockade (ICB) therapies that target programmed cell death 1 (PD1) and PD1 ligand 1 (PDL1) have demonstrated promising benefits in lung adenocarcinoma (LUAD), and tumor mutational burden (TMB) is the most robust biomarker associated ...
Mingming Jia, Mingming Jia, Mingming Jia, Linli Yao, Qin Yang, Tian Chi, Tian Chi   +6 more
doaj   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

GenProb‐PCSM: A Simplified Weighted Germline Score for Prostate Cancer‐Specific Mortality

The Prostate, EarlyView.
ABSTRACT Background We previously developed a tier‐based germline classification using the National Comprehensive Cancer Network (NCCN)‐recommended DNA damage repair (DDR) genes and KLK3 I179T to predict prostate cancer (PCa)‐specific mortality (PCSM).
Jun Wei, Zhuqing Shi, Lucy Lu, John Wang, Julian Xu, Ashley J. Mulford, Huy Tran, Annabelle Ashworth, S. Lilly Zheng, Alan R. Sanders, William B. Issacs, Jun Luo, Brian Helfand, Jim Lu, Jianfeng Xu   +14 more
wiley   +1 more source