Results 41 to 50 of about 37,501 (261)

Association of a novel point mutation in MSH2 gene with familial multiple primary cancers

Journal of Hematology & Oncology, 2017
Background Multiple primary cancers (MPC) have been identified as two or more cancers without any subordinate relationship that occur either simultaneously or metachronously in the same or different organs of an individual. Lynch syndrome is an autosomal
Hai Hu, Hong Li, Feng Jiao, Ting Han, Meng Zhuo, Jiujie Cui, Yixue Li, Liwei Wang   +7 more
doaj   +1 more source

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population

Cancer Biology & Medicine, 2022
Objective: Hereditary colorectal cancer (CRC) accounts for approximately 5%–10% of all CRC cases. The full profile of CRC-related germline mutations and the corresponding somatic mutational profile have not been fully determined in the Chinese population.
Jianfei Yao, Yunhuan Zhen, Jing Fan, Yuan Gong, Yumeng Ye, Shaohua Guo, Hongyi Liu, Xiaoyun Li, Guosheng Li, Pan Yang, Xiaohui Wang, Danni Liu, Tanxiao Huang, Huiya Cao, Peisu Suo, Yuemin Li, Jingbo Yu, Lele Song   +17 more
doaj   +1 more source

How does genetic risk information for Lynch syndrome translate to risk management behaviours? [PDF]

, 2017
Background There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations.
Keogh, L, Flander, L, Gaff, Clara, Robbins, A, Jenkins, M, Steel, Emma, Flander, Louisa, Steel, E, Keogh, Louise, Gaff, C, Robbins, Andrew, Jenkins, Mark   +11 more
core   +1 more source

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

A Randomized Phase II Study of Subcutaneous Mosunetuzumab in Combination With Polatuzumab Vedotin Compared With Rituximab Plus Polatuzumab Vedotin in Patients With Relapsed or Refractory Large B‐Cell Lymphoma

American Journal of Hematology, EarlyView.
ABSTRACT Mosunetuzumab plus polatuzumab vedotin has shown promising activity versus rituximab plus polatuzumab vedotin (R‐Pola) in patients with relapsed/refractory (R/R) large B‐cell lymphoma (LBCL; NCT03671018). We present results from the Phase II randomized cohort, evaluating subcutaneous mosunetuzumab plus polatuzumab vedotin (Mosun‐Pola), with ...
Julio C. Chavez, Mariana Bastos‐Oreiro, Catherine Diefenbach, Izidore S. Lossos, Nirav Shah, Sarit Assouline, Adam J. Olszewski, Seema Naik, Nilanjan Ghosh, Song Pham, Michael C. Wei, Connie Batlevi, Iris To, Wahib Ead, Sneha Makadia, Elicia Penuel, Jing Jing, Lihua E. Budde   +17 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

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

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

Lynch-like Syndrome: Potential Mechanisms and Management

, 2022
Lynch syndrome is an autosomal dominant disorder caused by germline mutations in DNA mismatch repair (MMR) system genes, such as MLH1, MSH2, MSH6, or PMS2. It is the most common hereditary colorectal cancer syndrome.
Anabel García-Heredia, Alejandro Martínez-Roca, José Luis Soto, Mar Giner-Calabuig, Adela Castillejo, Oscar Murcia, Rodrigo Jover   +6 more
core   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source