Results 61 to 70 of about 21,552 (215)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

NGS Panels applied to Hereditary Cancer Syndromes [PDF]

, 2019
Cancer is among the leading causes of morbidity and mortality worldwide (Okur et al, 2017). Germline pathogenic variants for monogenic, highly penetrant cancer susceptibility genes are observed in 5%–10% of all cancers (Lu et al, 2014).
Gonçalves, João, Rodrigues, Pedro, Silva, Catarina, Theisen, Patrícia, Vieira, Luís   +4 more
core  

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene  Pms2 [PDF]

Proceedings of the National Academy of Sciences, 1997
The Pms2 gene has been implicated in hereditary colon cancer and is one of several mammalian homologs of the Escherichia coli mutL DNA mismatch repair gene. To determine the effect of Pms2 inactivation on genomic integrity in vivo , hybrid ...
L, Narayanan, J A, Fritzell, S M, Baker, R M, Liskay, P M, Glazer   +4 more
openaire   +2 more sources

Bovine Leukemia Virus Infection Affects Host Gene Expression Associated with DNA Mismatch Repair

Pathogens, 2020
Bovine leukemia virus (BLV) causes enzootic bovine leukosis, a malignant form of B-cell lymphoma, and is closely related to human T-cell leukemia viruses. We investigated whether BLV infection affects host genes associated with DNA mismatch repair (MMR).
Lanlan Bai, Tomoya Hirose, Wlaa Assi, Satoshi Wada, Shin-nosuke Takeshima, Yoko Aida   +5 more
doaj   +1 more source

Clinicopathological and molecular analysis of microsatellite instability in prostate cancer: a multi-institutional study in China

Frontiers in Oncology, 2023
BackgroundMicrosatellite instability (MSI), or mismatch repair-deficiency (dMMR), is rare in prostate cancers (PCas). The histological and molecular features of PCas with MSI/dMMR are incompletely described.
Huizhi Zhang, Xiaoqun Yang, Jialing Xie, Xiao Cheng, Jiayi Chen, Miaomiao Shen, Wenyi Ding, Suying Wang, Zhe Zhang, Chaofu Wang, Ming Zhao   +10 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

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America [PDF]

, 2017
Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected ...
A Giraldo, A Gomez, A Mendoza Sanchez, A Recalde, A Stella, A Umar, A Wagner, AD Clarizia, Adriana Della Valle, AL Moisio, Alexandra Martins, AM Wielandt, André Escremim de Paula, AR Cajal, BA Thompson, Benedito Mauro Rossi, BM Rossi, BM Rossi, C Castro-Mujica Mdel, C Castro-Mujica Mdel, C Houdayer, C Nique Carbajal, C Ortiz, C Sarroca, CA Vaccaro, CA Vaccaro, CA Vaccaro, Carlos Alberto Vaccaro, Carlos Sarroca, CG Rasuck, Claudia Barletta-Carrillo, CM Egoavil, Constantino Dominguez-Barrera, DD Buchanan, DE Germini, DV Viana, E Borras, Edenir Inêz Palmero, Eivind Hovig, Enrique Spirandelli, Erika Maria Monteiro-Santos, Evaluation of Genomic Applications in P, Prevention Working G, FC Silva da, Florencia Neffa, Florencia Spirandelli, Francisco López-Kostner, G Casey, G Chong, G Ponti, G Yeo, GH Garcia, H Hampel, H Kobayashi, H Song, Henrique de Campos Reis Galvão, HF Vasen, HF Vasen, Hélène Tubeuf, I Borelli, I Thiffault, IN Freitas de, J Norum, J Risco, JP Plazzer, JT Dunnen den, Julio Sanchez de Monte, K Alvarez, Karin Alvarez, L Perez-Cabornero, L. Lena Morillas, Luis Gustavo Capochin Romagnolo, M Aarnio, M Clendenning, M Cruz-Correa, M Dominguez-Valentin, M Nystrom-Lahti, M Pinheiro, M Pinheiro, M Rodriguez-Soler, M Roque, M Tanyi, MA Ramirez-Ramirez, MA RodriguezBigas, Maria del Carmen Castro-Mujica, MD Valentin, MD Valentin, Melva Gutiérrez Angulo, Mev Dominguez-Valentin, NJ Froggatt, Norma Teresa Rossi, O Soukarieh, P Ashton-Prolla, P Koehler-Santos, P Lastella, P Vahteristo, Pablo German Kalfayan, Patricia Ashton-Prolla, Patrik Wernhoff, Pål Møller, Richard Quispe, RP Kuiper, Rui Manuel Reis, S Gupta, Sabrina Daniela da Silva, Sergio Chialina, SMO Leite, Susana Revollo, Tamara Alejandra Piñero, V Alonso-Espinaco, W Sjursen, WE Jesus-Monge De, Ximena Taborga, Y Montenegro, Yenni Rodriguez   +113 more
core   +4 more sources

Identification of the mismatch repair genes PMS2 and MLH1 as p53 target genes by using serial analysis of binding elements [PDF]

Proceedings of the National Academy of Sciences, 2005
The ability to determine the global location of transcription factor binding sites in vivo is important for a comprehensive understanding of gene regulation in human cells. We have developed a technology, called serial analysis of binding elements (SABE), involving subtractive hybridization of chromatin ...
Jiguo, Chen, Ivan, Sadowski
openaire   +2 more sources

Demographic and Clinical Characteristics of Early‐Onset Colorectal Cancer in Sweden and Finland: A Multicentre Retrospective Cohort Study Over Three Decades

Journal of Surgical Oncology, EarlyView.
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi, Tanja Hukkinen, Tuomas Kaprio, Sofia Edin, Mats Hjortborg, Cecilia Williams, Jaana Hagström, Caj Haglund, Richard Palmqvist, Karin Strigård, Camilla Böckelman, Ioannis Gkekas   +11 more
wiley   +1 more source