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Gut|February 15, 2013
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsHans F A Vasen, Ignacio Blanco, Katja Aktan-Collan, et al.Journal of Medical Genetics|August 15, 2012
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer riskAmanda B Spurdle, Phillip J Whiley, Bryony Thompson, et al.Gastroenterology|August 1, 2018
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance PoliciesChristoph Engel, Hans F Vasen, Toni Seppälä, et al.Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.Journal of Clinical Medicine|July 26, 2020
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome DatabaseMev Dominguez-Valentin, Toni T Seppälä, Christoph Engel, et al.Breast Cancer Research and Treatment|June 5, 2008
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort studyTimothy R Rebbeck, Antonis C Antoniou, Trinidad Caldes Llopis, et al.Gastroenterology|January 12, 2020
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch SyndromeChristoph Engel, Aysel Ahadova, Toni T Seppälä, et al.Journal of Medical Genetics|May 12, 2017
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortiumSetareh Moghadasi, Huong D Meeks, Maaike Pg Vreeswijk, et al.Journal of Medical Genetics|June 4, 2024
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriersXin Yang, Thea M Mooij, Goska Leslie, et al.Human Molecular Genetics|April 27, 2010
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersXianshu Wang, V Shane Pankratz, Zachary Fredericksen, et al.Pageof 55