Results 71 to 80 of about 16,515 (221)

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation

Molecular Genetics &Genomic Medicine, Volume 13, Issue 3, March 2025.
Patients recruited from the oncogenetic department with multiple cancers (348) were more likely to carry pathogenic mutations than those with a single cancer (1422) (27.3% vs. 13.39% p < 0.001). However, if the multiple primary cancers cannot be linked to the same hereditary predisposition syndrome, the prevalence of pathogenic variants is not ...
Mathis Lepage, Nancy Uhrhammer, Ioana Molnar, Maud Privat, Flora Ponelle‐Chachuat, Mathilde Gay‐Bellile, Yannick Bidet, Mathias Cavaillé   +7 more
wiley   +1 more source

Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels

BMC Medical Genetics, 2009
Background Identification and adequate management of individuals at risk for hereditary nonpolyposis colorectal cancer (HNPCC) is crucial since surveillance programmes reduce morbidity and mortality.
Bendahl Pär-Ola, Carlsson Christina, Domanska Katarina, Nilbert Mef   +3 more
doaj   +1 more source

Primary Sclerosing Epithelioid Fibrosarcoma of the Lung in a Patient with Lynch Syndrome [PDF]

, 2018
Sclerosing epithelioid fibrosarcoma (SEF) is a rare neoplasm arising mostly in limbs and limb girdles, with a high rate of recurrence and a strong tendency to metastasize.
Jungraithmayr, Wolfgang, Leisibach, Priska, Soltermann, Alex, Weder, Walter   +3 more
core  

Comparative sequencing study of mismatch repair and homology‐directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan

International Journal of Cancer, Volume 156, Issue 4, Page 764-775, 15 February 2025.
What's new? In high‐risk families, endometrial cancer appears to be mainly triggered by pathogenic variants in mismatch repair genes, and breast cancer by pathogenic variants in homology‐directed repair genes. However, the two pathways are not mutually exclusive.
Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers, Lisa‐Marie Speith, Natalia Bogdanova, Julia Enßen, Natalia Dubrowinskaja, Tatyana Yugay, Zura Berkutovna Yessimsiitova, Nurzhan Turmanov, Peter Hillemanns, Thilo Dörk   +13 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

AMIGO2 characterizes cancer‐associated fibroblasts in metastatic colon cancer and induces the release of paracrine active tumorigenic secretomes

The Journal of Pathology, Volume 265, Issue 1, Page 14-25, January 2025.
Abstract Secretomes of cancer‐associated fibroblasts (CAFs) in colorectal cancer (CRC) contribute to malignancy. Detailed knowledge is available on the components and functions of CAF secretomes. Little is known about the regulation of CAF secretomes.
Yongsong Yong, Richard Demmler, Bisan Abdalfatah Zohud, Qi Fang, Tong Zhang, Yonghua Zhou, Katja Petter, Christian Flierl, Tobias Gass, Carol I Geppert, Susanne Merkel, Vera S Schellerer, Elisabeth Naschberger, Michael Stürzl   +13 more
wiley   +1 more source

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

The Application of Clinical Genetics, 2014
Stephanie A Cohen,1 Anna Leininger2 1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA Abstract: Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for
Cohen SA, Leininger A
doaj  

Narrative review comparing the epidemiology, characteristics, and survival in sporadic colorectal carcinoma/Lynch syndrome

Journal of Coloproctology, 2020
Introduction: Colorectal carcinoma is the third most prevalent neoplasm in the world, and the second cause of death by cancer. The most part of these neoplasms are sporadic by somatic mutations, but around 15% are hereditary, such as Lynch syndrome or ...
Maria Beatriz de Matos, Laura Elisabete Barbosa, João Paulo Teixeira   +2 more
doaj   +1 more source

Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer

Pigment Cell &Melanoma Research, Volume 38, Issue 1, January 2025.
ABSTRACT Cutaneous melanoma (CM) and pancreatic cancer are aggressive tumors whose incidences are rapidly increasing in the last years. This review aims to provide a complete and update description about mutational landscape in CM and pancreatic cancer, focusing on similarities of these two apparently so different tumors in terms of site, type of cell ...
Elisabetta Broseghini, Federico Venturi, Giulia Veronesi, Biagio Scotti, Marina Migliori, Desy Marini, Claudio Ricci, Riccardo Casadei, Manuela Ferracin, Emi Dika   +9 more
wiley   +1 more source

Detección de mutaciones de los genes hMLH1 y hMSH2 del sistema de reparación de malos apareamientos del ADN en familias colombianas sospechosas de cancer colorrectal no polipósico hereditario (síndrome de Lynch).

Biomédica: revista del Instituto Nacional de Salud, 2005
Introducción. El cáncer colorrectal es la segunda causa de morbilidad y mortalidad por cáncer en los países desarrollados. En Colombia es la quinta causa de muerte entre los diferentes cánceres.
Andrea Gómez, Gustavo Salguero, Herbert García, Fabio Aristizábal, Oscar Gutiérrez, Luis Alberto Angel, Jorge Padrón, Carlos Martínez, Humberto Martínez, Omar Malaver, Rosa Barvo, Alejandro Giraldo   +11 more
doaj   +1 more source