HuGE Literature Finder
Records 1-30
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Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
JAMA oncology 2020 Mar . Mirabello Lisa, Zhu Bin, Koster Roelof, Karlins Eric, Dean Michael, Yeager Meredith, Gianferante Matthew, Spector Logan G, Morton Lindsay M, Karyadi Danielle, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Song Lei, Pankratz Nathan, Pinheiro Maisa, Gastier-Foster Julie M, Gorlick Richard, de Toledo Silvia Regina Caminada, Petrilli Antonio S, Patino-Garcia Ana, Lecanda Fernando, Gutierrez-Jimeno Miriam, Serra Massimo, Hattinger Claudia, Picci Piero, Scotlandi Katia, Flanagan Adrienne M, Tirabosco Roberto, Amary Maria Fernanda, Kurucu Nilgün, Ilhan Inci Ergurhan, Ballinger Mandy L, Thomas David M, Barkauskas Donald A, Mejia-Baltodano Gerardo, Valverde Patricia, Hicks Belynda D, Zhu Bin, Wang Mingyi, Hutchinson Amy A, Tucker Margaret, Sampson Joshua, Landi Maria T, Freedman Neal D, Gapstur Susan, Carter Brian, Hoover Robert N, Chanock Stephen J, Savage Sharon |
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Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.
Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
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p53, Cyclin-D1, ß-catenin, APC and c-myc in Tumor Tissue from Colorectal and Gastric Cancer Patients with Suspected Lynch Syndrome by the Bethesda Criteria.
Asian Pacific journal of cancer prevention : APJCP 2020 Feb 21 (2): 343-348. Marcolino Tais Fernanda, Pimenta Celia Aparecida Marques, Artigiani Neto Ricardo, Castelo Paula, Silva Marcelo Souza, Forones Nora Manoukian, Oshima Celina Tizuko Fujiya |
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Identification of Lynch syndrome risk variants in the Romanian population.
Journal of cellular and molecular medicine 2018 Dec 22 (12): 6068-6076. Iordache Paul D, Mates Dana, Gunnarsson Bjarni, Eggertsson Hannes P, Sulem Patrick, Benonisdottir Stefania, Csiki Irma Eva, Rascu Stefan, Radavoi Daniel, Ursu Radu, Staicu Catalin, Calota Violeta, Voinoiu Angelica, Jinga Mariana, Rosoga Gabriel, Danau Razvan, Sima Sorin Cristian, Badescu Daniel, Suciu Nicoleta, Radoi Viorica, Mates Ioan Nicolae, Dobra Mihai, Nicolae Camelia, Kristjansdottir Sigrun, Jonasson Jon G, Manolescu Andrei, Arnadottir Gudny, Jensson Brynjar, Jonasdottir Aslaug, Sigurdsson Asgeir, le Roux Louise, Johannsdottir Hrefna, Rafnar Thorunn, Halldorsson Bjarni V, Jinga Viorel, Stefansson Ka |
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Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
Oncotarget 2018 Jul 9 (55): 30649-30660. Chan Gloria H J, Ong Pei Yi, Low Jeffrey J H, Kong Hwai Loong, Ow Samuel G W, Tan David S P, Lim Yi Wan, Lim Siew Eng, Lee Soo-Ch |
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Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Yurgelun Matthew B, Chittenden Anu B, Morales-Oyarvide Vicente, Rubinson Douglas A, Dunne Richard F, Kozak Margaret M, Qian Zhi Rong, Welch Marisa W, Brais Lauren K, Da Silva Annacarolina, Bui Justin L, Yuan Chen, Li Tingting, Li Wanwan, Masuda Atsuhiro, Gu Mancang, Bullock Andrea J, Chang Daniel T, Clancy Thomas E, Linehan David C, Findeis-Hosey Jennifer J, Doyle Leona A, Thorner Aaron R, Ducar Matthew D, Wollison Bruce M, Khalaf Natalia, Perez Kimberly, Syngal Sapna, Aguirre Andrew J, Hahn William C, Meyerson Matthew L, Fuchs Charles S, Ogino Shuji, Hornick Jason L, Hezel Aram F, Koong Albert C, Nowak Jonathan A, Wolpin Brian |
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Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.
JCI insight 2018 Mar 3 (6): . Vaught Arthur J, Braunstein Evan M, Jasem Jagar, Yuan Xuan, Makhlin Igor, Eloundou Solange, Baines Andrea C, Merrill Samuel A, Chaturvedi Shruti, Blakemore Karin, Sperati C John, Brodsky Robert |
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Molecular and Clinicopathological Differences by Age at the Diagnosis of Colorectal Cancer.
International journal of molecular sciences 2017 Jul 18 (7): . Chang Chu-Cheng, Lin Pei-Ching, Lin Chun-Chi, Lan Yuan-Tzu, Lin Hung-Hsin, Lin Chien-Hsing, Yang Shung-Haur, Liang Wen-Yi, Chen Wei-Shone, Jiang Jeng-Kai, Lin Jen-Kou, Chang Shih-Chi |
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Local recurrences at the anastomotic area are clonally related to the primary tumor in sporadic colorectal carcinoma.
Oncotarget 2017 Jun 8 (26): 42487-42494. Vakiani Efsevia, Shah Ronak H, Berger Michael F, Makohon-Moore Alvin P, Reiter Johannes G, Ostrovnaya Irina, Attiyeh Marc A, Cercek Andrea, Shia Jinru, Iacobuzio-Donahue Christine A, Solit David B, Weiser Martin |
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Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 May . Sekine Shigeki, Mori Taisuke, Ogawa Reiko, Tanaka Masahiro, Yoshida Hiroshi, Taniguchi Hirokazu, Nakajima Takeshi, Sugano Kokichi, Yoshida Teruhiko, Kato Mamoru, Furukawa Eisaku, Ochiai Atsushi, Hiraoka Nobuyos |
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Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Scientific reports 2017 May 7 (1): 2214. Khan Nikhat, Lipsa Anuja, Arunachal Gautham, Ramadwar Mukta, Sarin Raj |
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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
BMC medical genomics 2017 05 10 (1): 33. Cheng Donavan T, Prasad Meera, Chekaluk Yvonne, Benayed Ryma, Sadowska Justyna, Zehir Ahmet, Syed Aijazuddin, Wang Yan Elsa, Somar Joshua, Li Yirong, Yelskaya Zarina, Wong Donna, Robson Mark E, Offit Kenneth, Berger Michael F, Nafa Khedoudja, Ladanyi Marc, Zhang Liyi |
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Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 Nov 29 (11): 1381-1389. Ring Kari L, Bruegl Amanda S, Allen Brian A, Elkin Eric P, Singh Nanda, Hartman Anne-Renee, Daniels Molly S, Broaddus Russell |
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
American journal of human genetics 2016 Aug 99 (2): 337-51. Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stef |
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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
Familial cancer 2016 Feb . Ghorbanoghli Z, Nieuwenhuis M H, Houwing-Duistermaat J J, Jagmohan-Changur S, Hes F J, Tops C M, Wagner A, Aalfs C M, Verhoef S, Gómez García E B, Sijmons R H, Menko F H, Letteboer T G, Hoogerbrugge N, van Wezel T, Vasen H F A, Wijnen J |
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Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Familial cancer 2015 Oct . Papp Janos, Kovacs Marietta Eva, Matrai Zoltan, Orosz Enik?, Kásler Miklós, Børresen-Dale Anne-Lise, Olah Edi |
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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Gastroenterology 2015 Sep 149 (3): 604-613.e20. Yurgelun Matthew B, Allen Brian, Kaldate Rajesh R, Bowles Karla R, Judkins Thaddeus, Kaushik Praveen, Roa Benjamin B, Wenstrup Richard J, Hartman Anne-Renee, Syngal Sap |
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Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews.
Familial cancer 2015 Sep 14 (3): 427-36. Rosner Guy, Bercovich Dani, Daniel Yael Etzion, Strul Hana, Fliss-Isakov Naomi, Ben-Yehoiada Meirav, Santo Erwin, Halpern Zamir, Kariv Revit |
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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
International journal of cancer. Journal international du cancer 2015 Jul 137 (2): 320-31. Spier Isabel, Holzapfel Stefanie, Altmüller Janine, Zhao Bixiao, Horpaopan Sukanya, Vogt Stefanie, Chen Sophia, Morak Monika, Raeder Susanne, Kayser Katrin, Stienen Dietlinde, Adam Ronja, Nürnberg Peter, Plotz Guido, Holinski-Feder Elke, Lifton Richard P, Thiele Holger, Hoffmann Per, Steinke Verena, Aretz Stef |
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Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.
Journal of experimental & clinical cancer research : CR 2014 33 74. Mancini-DiNardo Debora, Judkins Thaddeus, Woolstenhulme Nick, Burton Collin, Schoenberger Jeremy, Ryder Matthew, Murray Adam, Gutin Natalia, Theisen Aaron, Holladay Jayson, Craft Jonathan, Arnell Christopher, Moyes Kelsey, Roa Benjam |
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Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.
Familial cancer 2013 Mar 12 (1): 35-42. Schwarzová Lucie, Štekrová Jitka, Florianová Martina, Novotný Aleš, Schneiderová Michaela, Ln?ni?ka Petr, Kebrdlová V?ra, Kotlas Jaroslav, Veselá Kamila, Kohoutová Mila |
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Association study of APC polymorphisms with colorectal cancer in Han Chinese.
Clinical biochemistry 2012 Jul . Huang X, Wang Y, Yu T, Liu B, Li X, Li W, Chen S, Zhao Q, Li X, Yang F, Wang Q, Wang J, Xiao Y, Xu Y, Feng G, Peng Z, He L, He G |
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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
The Journal of molecular diagnostics : JMD 2012 Jul 14 (4): 357-66. Pritchard Colin C, Smith Christina, Salipante Stephen J, Lee Ming K, Thornton Anne M, Nord Alex S, Gulden Cassandra, Kupfer Sonia S, Swisher Elizabeth M, Bennett Robin L, Novetsky Akiva P, Jarvik Gail P, Olopade Olufunmilayo I, Goodfellow Paul J, King Mary-Claire, Tait Jonathan F, Walsh T |
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Analysis of Endothelial Protein C Receptor Gene and Metabolic Profile in Prader-Willi Syndrome and Obese Subjects.
Obesity (Silver Spring, Md.) 2011 Dec . Faienza MF, Ventura A, Lauciello R, Crinò A, Ragusa L, Cavallo L, Spera S, Grugni G |
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Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.
European journal of cancer (Oxford, England : 1990) 2010 Sep 46 (13): 2457-66. Wong Hui-Lee, Peters Ulrike, Hayes Richard B, Huang Wen-Yi, Schatzkin Arthur, Bresalier Robert S, Velie Ellen M, Brody Lawrence |
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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
BMC medical genetics 2009 10 . Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C |
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APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.
Annals of surgical oncology 2009 Apr 16 (4): 871-7. Lefevre Jérémie H, Parc Yann, Svrcek Magali, Kernéis Solen, Colas Chrystelle, Shields Conor, Flejou Jean-François, Parc Rolland, Tiret Emmanu |
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Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.
Gastroenterology 2008 Dec 135 (6): 2014-8. Boparai Karam S, Dekker Evelien, Van Eeden Susanne, Polak Mirjam M, Bartelsman Joep F W M, Mathus-Vliegen Elisbeth M H, Keller Josbert J, van Noesel Carel J |
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How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.
Cancer genetics and cytogenetics 2007 Sep 177 (2): 95-7. Dundar Munis, Caglayan Ahmet Okay, Saatci Cetin, Karaca Hatice, Baskol Mevlut, Tahiri Serpil, Ozkul Yus |
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Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.
European journal of cancer (Oxford, England : 1990) 2007 Jul 43 (10): 1617-21. Sulová M, Zídková K, Kleibl Z, Stekrová J, Kebrdlová V, Bortlík M, Lukás M, Kohoutová |
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APC and CTNNB1 mutations are rare in sporadic ependymomas.
Cancer genetics and cytogenetics 2006 Jul 168 (2): 158-61. Onilude Olabisi E, Lusher Meryl E, Lindsey Janet C, Pearson Andrew D J, Ellison David W, Clifford Steven |
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[Hematological changes and related gene mutation of post-severe acute respiratory syndrome patients with osteonecrosis].
Zhonghua yi xue za zhi 2006 Feb 86 (7): 442-5. Sun Wei, Li Zi-rong, Shi Zhen-cai, Zhang Nian-fei, Han Cheng-wu, Cong Xiao, Zhang Yuan-ch |
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Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.
American journal of medical genetics. Part A 2006 Feb 140 (3): 200-4. Bisgaard Marie Luise, Bülow Steff |
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Is prophylactic colectomy indicated in patients with MYH-associated polyposis?
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2005 Jul 7 (4): 327-31. Leite J S, Isidro G, Martins M, Regateiro F, Albuquerque O, Amaro P, Romãozinho J M, Boavida G, Castro-Sousa |
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Markers of activated coagulation in patients with factor V Leiden and/or G20210A prothrombin gene mutation.
Thrombosis research 2002 Jul 107 (1-2): 7-11. Gouin-Thibault I, Arkam R, Nassiri S, de la Tourette A, Conard J, Horellou M H, Elalamy I, Samama M |
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Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.
Cancer research 2001 Oct 61 (20): 7616-22. Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Müller H, Foernzler D, Dobbie |
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Relationship between APC genotype, polyp distribution, and oral sulindac treatment in the colon and rectum of patients with familial adenomatous polyposis.
Diseases of the colon and rectum 2001 Aug 44 (8): 1090-7; discussion 1097-9. Guldenschuh I, Hurlimann R, Muller A, Ammann R, Mullhaupt B, Dobbie Z, Zala G F, Flury R, Seelentag W, Roth J, Meyenberger C, Fried M, Hoppeler T, Spigelman A D, Scott R |
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- Page last updated:Jul 10, 2020
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