Results 31 to 40 of about 31,569 (215)

Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention.
Robert F. Power, Damien E. Doherty, Roberta Horgan, Pat Fahey, David J. Gallagher, Maeve A. Lowery, Karen A. Cadoo   +6 more
doaj   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Prevalence of MSI‐H/dMMR Colorectal Cancer in Japan: Data From the Clinical Study Group of the University of Osaka‐Colorectal Registry

Annals of Gastroenterological Surgery, EarlyView.
Using a multicenter Japanese colorectal cancer cohort from 25 institutions, we analyzed 1464 patients across all disease stages and tumor locations to determine the prevalence and clinicopathological features of MSI‐H/dMMR colorectal cancer. MSI‐H/dMMR tumors accounted for 9.4% of cases overall, were present in 22% of right‐sided colon cancers, and ...
Yoshihiro Morimoto, Mamoru Uemura, Yoshinori Kagawa, Hidekazu Takahashi, Masayuki Hiraki, Yozo Suzuki, Shinichi Yoshioka, Mitsuyoshi Tei, Shu Okamura, Yukako Mokutani, Atsushi Naito, Shinji Tokuyama, Takamichi Komori, Akinobu Yasuyama, Genta Sawada, Yujiro Fujie, Shinya Yamashita, Naotsugu Haraguchi, Yusuke Matsuura, Chu Matsuda, Yoshinao Chinen, Tatsushi Shingai, Katsuki Danno, Nobuo Tanaka, Kazuya Sakata, Kohei Murata, Yuichiro Doki, Hidetoshi Eguchi   +27 more
wiley   +1 more source

Genetic Counseling and Surveillance Focused on Lynch Syndrome

Journal of the Anus, Rectum and Colon, 2019
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of various cancers, particularly colorectal, and endometrial cancers.
Jin Yong Kim, Jeong-Sik Byeon
doaj   +1 more source

Differentiating Lynch-Like From Lynch Syndrome [PDF]

Gastroenterology, 2014
Lynch syndrome is a hereditary condition found in ~3% of all colorectal cancer patients and is defined by germline inactivation in one of the DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hMSH6, hPMS2) (1,2). One allele is inactivated in every cell in a Lynch syndrome patient most commonly by pathogenic mutation or deletion of hMSH2 or hMLH1, or less ...
openaire   +2 more sources

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Circulating metabolome landscape in Lynch syndrome

Cancer & Metabolism
Circulating metabolites systemically reflect cellular processes and can modulate the tissue microenvironment in complex ways, potentially impacting cancer initiation processes.
Tiina A. Jokela, Jari E. Karppinen, Minta Kärkkäinen, Jukka-Pekka Mecklin, Simon Walker, Toni T. Seppälä, Eija K. Laakkonen   +6 more
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Haematuria in Association with Lynch Syndrome

Clinics and Practice, 2012
A 40-year-old Caucasian male presented to the Emergency Department complaining of intermittent painless frank haematuria. Past medical history was significant for Hereditary Non-Polyposis Colon Cancer (HNPCC) and a prophylactic total colectomy. Computed tomography urogram showed thickening in the posterior wall of the bladder. Cystoscopy showed a small
Marwan Ma'ayeh, Richard Power, Deirdre Mary Fanning   +2 more
openaire   +3 more sources

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer

Hereditary Cancer in Clinical Practice, 2021
Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers.
Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman   +5 more
doaj   +1 more source