HuGE Literature Finder
Records 1-30
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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy.
Cancer research and treatment : official journal of Korean Cancer Association 2019 Jul 51 (3): 1198-1206. Yang Jie, Huang Ying, Feng Yanru, Li Hongmin, Feng Ting, Chen Jinna, Yin Luxi, Wang Weihu, Wang Shulian, Liu Yueping, Song Yongwen, Li Yexiong, Jin Jing, Tan Wen, Lin Dongx |
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Low frequency of mismatch repair deficiency in gallbladder cancer.
Diagnostic pathology 2019 May 14 (1): 36. Goeppert Benjamin, Roessler Stephanie, Renner Marcus, Loeffler Moritz, Singer Stephan, Rausch Melina, Albrecht Thomas, Mehrabi Arianeb, Vogel Monika Nadja, Pathil Anita, Czink Elena, Köhler Bruno, Springfeld Christoph, Rupp Christian, Weiss Karl Heinz, Schirmacher Peter, von Knebel Doeberitz Magnus, Kloor Matthi |
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Targeted next generation sequencing screening of Lynch syndrome in Tunisian population.
Familial cancer 2019 May . Ben Sghaier Rihab, Jansen Anne Maria Lucia, Bdioui Ahlem, Van Wezel Tom, Ksiaa Mehdi, Elgolli Lamia, Ben Fatma Leila, Ben Ahmed Slim, Azzouz Mohamed Msaddak, Hellara Olfa, Elghali Amine, Darbel Fathi, Skandrani Karim, Mokkni Moncef, Gdissa Ameni, Ltaief Rached, Saad Ali, Hmila Fahmi, Gribaa Moez, Morreau Ha |
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Targeted Next-Generation Sequencing of
Balkan medical journal 2019 01 36 (1): 37-42. Özdemir Taha Resid, Alan Murat, Sanci Muzaffer, Koç Alt |
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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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Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
International journal of cancer 2018 Jul . Kayser Katrin, Degenhardt Franziska, Holzapfel Stefanie, Horpaopan Sukanya, Peters Sophia, Spier Isabel, Morak Monika, Vangala Deepak, Rahner Nils, von Knebel-Doeberitz Magnus, Schackert Hans K, Engel Christoph, Büttner Reinhard, Wijnen Juul, Doerks Tobias, Bork Peer, Moebus Susanne, Herms Stefan, Fischer Sascha, Hoffmann Per, Aretz Stefan, Steinke-Lange Vere |
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[Genetic variations in MLH3 and MSH2 genes are associated with the sensitivity and prognosis in locally advanced rectal cancer patients receiving preoperative chemoradiotherapy].
Zhonghua zhong liu za zhi [Chinese journal of oncology] 2018 Jun 40 (6): 433-440. Yang J, Wang X, Zou S M, Li H M, Xiao Q, Feng Y R, Huang Y, Feng T, Chen J N, Lin D X, Li Y X, Jin J, Tan |
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The prognostic impact of CDX2 correlates with the underlying mismatch repair status and BRAF mutational status but not with distant metastasis in colorectal cancer.
Virchows Archiv : an international journal of pathology 2018 Apr . Neumann Jens, Heinemann Volker, Engel Jutta, Kirchner Thomas, Stintzing Sebasti |
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Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G>A Polymorphism in Sporadic Colon Cancer.
Anticancer research 2018 05 38 (5): 2841-2848. Cacev Tamara, Zapletal Emilija, Musani Vesna, Rako Ivana, Loncar Bozo, Aralica Gorana, Kapitanovic San |
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SNP association study in PMS2-associated Lynch syndrome.
Familial cancer 2017 Nov . Ten Broeke Sanne W, Elsayed Fadwa A, Pagan Lisa, Olderode-Berends Maran J W, Garcia Encarna Gomez, Gille Hans J P, van Hest Liselot P, Letteboer Tom G W, van der Kolk Lizet E, Mensenkamp Arjen R, van Os Theo A, Spruijt Liesbeth, Redeker Bert J W, Suerink Manon, Vos Yvonne J, Wagner Anja, Wijnen Juul T, Steyerberg E W, Tops Carli M J, van Wezel Tom, Nielsen Maart |
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Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel.
Familial cancer 2017 Jun . Abu Freha Naim, Leibovici Weissman Yaara, Fich Alexander, Barnes Kedar Inbal, Halpern Marisa, Sztarkier Ignacio, Behar Doron M, Arbib Sneh Orly, Vilkin Alex, Baris Hagit N, Gingold Rachel, Lejbkowicz Flavio, Niv Yaron, Goldberg Yael, Levi Zoh |
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Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.
BMC cancer 2017 12 17 (1): 843. Lee Jasmine, Xiao Yin-Yi, Sun Yan Yu, Balderacchi Jasminka, Clark Bradley, Desani Jatin, Kumar Vivek, Saverimuthu Angela, Win Khin Than, Huang Yiwu, Xu Yiqi |
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Response to Chemotherapy and Prognosis in Metastatic Colorectal Cancer With DNA Deficient Mismatch Repair.
Clinical colorectal cancer 2017 09 16 (3): 228-239. Alex Alexandra Khichfy, Siqueira Sheila, Coudry Renata, Santos Juliana, Alves Michel, Hoff Paulo M, Riechelmann Rachel |
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Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
Archives of gynecology and obstetrics 2016 Nov 294 (6): 1299-1303. Kast Karin, Dobberschütz Catharina, Sadowski Carolin Eva, Pistorius Steffen, Wimberger Pauli |
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Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
Cancer science 2016 Sep . Sugano Kokichi, Nakajima Takeshi, Sekine Shigeki, Taniguchi Hirokazu, Saito Shinya, Takahashi Masahiro, Ushiama Mineko, Sakamoto Hiromi, Yoshida Teruhi |
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Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Oncology reports 2016 Sep . Lagerstedt-Robinson Kristina, Rohlin Anna, Aravidis Christos, Melin Beatrice, Nordling Margareta, Stenmark-Askmalm Marie, Lindblom Annika, Nilbert M |
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Colorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients.
Journal of pediatric surgery 2016 Aug . Khan Sajid A, Morris Melinda, Idrees Kamran, Gimbel Mark I, Rosenberg Shoshana, Zeng Zhaoshi, Li Fangyong, Gan Geliang, Shia Jinru, LaQuaglia Michael P, Paty Philip |
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HMSH2 and HMSH6 gene expression profiles in colorectal adenocarcinoma in patients up to 50 years of age.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2016 Jul 83 602-606. Germini Demétrius, Gehrke Flávia, Lira Daniel, Alves Beatriz, Azzalis Lígia, Perez Matheus, Fonseca Fernando, Waisberg Jaqu |
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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.
World journal of gastroenterology 2016 Feb 22 (7): 2314-25. Chang Yuli Christine, Chang Jan-Gowth, Liu Ta-Chih, Lin Chien-Yu, Yang Shu-Fen, Ho Cheng-Mao, Chen William Tzu-Liang, Chang Ya-Si |
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Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
BMC urology 2016 16 (1): 15. Dominguez-Valentin Mev, Joost Patrick, Therkildsen Christina, Jonsson Mats, Rambech Eva, Nilbert M |
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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Gut 2015 Dec . Møller Pål, Seppälä Toni, Bernstein Inge, Holinski-Feder Elke, Sala Paola, Evans D Gareth, Lindblom Annika, Macrae Finlay, Blanco Ignacio, Sijmons Rolf, Jeffries Jacqueline, Vasen Hans, Burn John, Nakken Sigve, Hovig Eivind, Rødland Einar Andreas, Tharmaratnam Kukatharmini, de Vos Tot Nederveen Cappel Wouter H, Hill James, Wijnen Juul, Green Kate, Lalloo Fiona, Sunde Lone, Mints Miriam, Bertario Lucio, Pineda Marta, Navarro Matilde, Morak Monika, Renkonen-Sinisalo Laura, Frayling Ian M, Plazzer John-Paul, Pylvanainen Kirsi, Sampson Julian R, Capella Gabriel, Mecklin Jukka-Pekka, Möslein Gabriela, |
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Contribution of rare germline copy number variations and common susceptibility loci in Lynch Syndrome patients negative for mutations in the mismatch repair genes.
International journal of cancer. Journal international du cancer 2015 Dec . Villacis Rolando A R, Miranda Priscila M, Gomy Israel, Santos Erika M M, Carraro Dirce M, Achatz Maria I, Rossi Benedito M, Rogatto Silvia |
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Lynch syndrome and cervical cancer.
International journal of cancer. Journal international du cancer 2015 Dec 137 (11): 2757-61. Antill Yoland C, Dowty James G, Win Aung Ko, Thompson Tina, Walsh Michael D, Cummings Margaret C, Gallinger Steven, Lindor Noralane M, Le Marchand Loïc, Hopper John L, Newcomb Polly A, Haile Robert W, Church James, Tucker Katherine M, Buchanan Daniel D, Young Joanne P, Winship Ingrid M, Jenkins Mark |
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Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
Oncotarget 2015 Oct . Maccaroni Elena, Bracci Raffaella, Giampieri Riccardo, Bianchi Francesca, Belvederesi Laura, Brugiati Cristiana, Pagliaretta Silvia, Del Prete Michela, Scartozzi Mario, Cascinu Stefa |
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Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations.
Urology 2015 Sep . Joost Patrick, Therkildsen Christina, Dominguez-Valentin Mev, Jönsson Mats, Nilbert M |
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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
European journal of human genetics : EJHG 2015 Aug 23 (8): 1080-4. Elsayed Fadwa A, Kets C Marleen, Ruano Dina, van den Akker Brendy, Mensenkamp Arjen R, Schrumpf Melanie, Nielsen Maartje, Wijnen Juul T, Tops Carli M, Ligtenberg Marjolijn J, Vasen Hans F A, Hes Frederik J, Morreau Hans, van Wezel T |
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Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China.
Journal of cancer research and clinical oncology 2015 Aug 141 (8): 1393-404. Li Guangxiao, Hu Fulan, Yuan Fengshun, Fan Jialong, Yu Zhifu, Wu Zhiwei, Zhao Xiaojuan, Li Ye, Li Shuying, Rong Jiesheng, Cui Binbin, Dong Xinshu, Yuan Huiping, Zhao Yashua |
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Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
International journal of molecular medicine 2015 Aug 36 (2): 511-7. Duraturo Francesca, Liccardo Raffaella, Cavallo Angela, De Rosa Marina, Rossi Giovanni Battista, Izzo Pao |
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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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Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
Familial cancer 2015 Jul . Win Aung Ko, Reece Jeanette C, Buchanan Daniel D, Clendenning Mark, Young Joanne P, Cleary Sean P, Kim Hyeja, Cotterchio Michelle, Dowty James G, MacInnis Robert J, Tucker Katherine M, Winship Ingrid M, Macrae Finlay A, Burnett Terrilea, Le Marchand Loïc, Casey Graham, Haile Robert W, Newcomb Polly A, Thibodeau Stephen N, Lindor Noralane M, Hopper John L, Gallinger Steven, Jenkins Mark |
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Genetic features of Lynch syndrome in the Israeli population.
Clinical genetics 2015 Jun 87 (6): 549-53. Goldberg Y, Barnes-Kedar I, Lerer I, Halpern N, Plesser M, Hubert A, Kadouri L, Goldshmidt H, Solar I, Strul H, Rosner G, Baris H N, Peretz T, Levi Z, Kariv |
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Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature.
Journal of gastrointestinal cancer 2015 Jun 46 (2): 118-25. Zeinalian Mehrdad, Emami Mohammad Hassan, Salehi Rasoul, Naimi Azar, Kazemi Mohammad, Hashemzadeh-Chaleshtori Morte |
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KRAS and BRAF gene mutations and DNA mismatch repair status in Chinese colorectal carcinoma patients.
World journal of gastroenterology : WJG 2015 Feb 21 (5): 1595-605. Ye Ju-Xiang, Liu Yan, Qin Yun, Zhong Hao-Hao, Yi Wei-Ning, Shi Xue-Yi |
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Distinct Clinicopathological Patterns of Mismatch Repair Status in Colorectal Cancer Stratified by KRAS Mutations.
PloS one 2015 10 (6): e0128202. Li Wenbin, Zhi Wenxue, Zou Shuangmei, Qiu Tian, Ling Yun, Shan Ling, Shi Susheng, Ying Jianmi |
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Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
PloS one 2015 10 (6): e0130018. Kamiza Abram Bunya, Hsieh Ling-Ling, Tang Reiping, Chien Huei-Tzu, Lai Chih-Hsiung, Chiu Li-Ling, Lo Tsai-Ping, Hung Kuan-Yi, Wang Chun-Yi, You Jeng-Fu, Hsiung Chao A, Yeh Chih-Chi |
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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Gastroenterology 2014 Dec 147 (6): 1308-1316.e1. Haraldsdottir Sigurdis, Hampel Heather, Tomsic Jerneja, Frankel Wendy L, Pearlman Rachel, de la Chapelle Albert, Pritchard Colin |
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Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer.
World journal of gastroenterology : WJG 2014 Dec 20 (48): 18338-45. Yan Zhi-Hui, Cui Li-Hong, Wang Xiao-Hui, Li Chao, He Xi |
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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
Familial cancer 2014 Dec 13 (4): 573-82. Rosty Christophe, Walsh Michael D, Lindor Noralane M, Thibodeau Stephen N, Mundt Erin, Gallinger Steven, Aronson Melyssa, Pollett Aaron, Baron John A, Pearson Sally, Clendenning Mark, Walters Rhiannon J, Nagler Belinda N, Crawford William J, Young Joanne P, Winship Ingrid, Win Aung Ko, Hopper John L, Jenkins Mark A, Buchanan Daniel |
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MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2014 Nov 40 (11): 1445-52. Tanyi M, Olasz J, Tanyi J L, Tóth L, Antal-Szalmás P, Ress Z, Bubán T, Palatka K, András C, Urbancsek H, Garami Z, Csuka O, Damjanovich |
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Risk of secondary malignancy (including breast) in patients with mismatch-repair protein deficiency.
The American journal of surgical pathology 2014 Nov 38 (11): 1494-500. Clay Michael R, Allison Kimberly H, Folkins Ann K, Longacre Teri |
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Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.
International journal of cancer. Journal international du cancer 2014 Jul 135 (1): 69-77. Steinke Verena, Holzapfel Stefanie, Loeffler Markus, Holinski-Feder Elke, Morak Monika, Schackert Hans K, Görgens Heike, Pox Christian, Royer-Pokora Brigitte, von Knebel-Doeberitz Magnus, Büttner Reinhard, Propping Peter, Engel Christoph, |
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Prognostic significance of hMLH1/hMSH2 gene mutations and hMLH1 promoter methylation in sporadic colorectal cancer.
Medical oncology (Northwood, London, England) 2014 Jul 31 (7): 39. Wang Yibaina, Li Dandan, Li Xia, Teng Chong, Zhu Lin, Cui Binbin, Zhao Yashuang, Hu Ful |
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The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer.
Medical oncology (Northwood, London, England) 2014 Jun 31 (6): 975. Wang Yibaina, Li Guangxiao, Hu Fulan, Bi Haoran, Wu Zhiwei, Zhao Xiaojuan, Li Ye, Li Shuying, Li Dandan, Cui Binbin, Dong Xinshu, Zhao Yashua |
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BRAFV600E immunohistochemistry in conjunction with mismatch repair status predicts survival in patients with colorectal cancer.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2014 May 27 (5): 644-50. Toon Christopher W, Chou Angela, DeSilva Keshani, Chan Joseph, Patterson Jillian, Clarkson Adele, Sioson Loretta, Jankova Lucy, Gill Anthony |
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Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
PloS one 2014 9 (4): e94170. Liu Yanqun, Chew Min Hoe, Goh Xue Wei, Tan Soo Yong, Loi Carol Tien Tau, Tan Yuen Ming, Law Hai Yang, Koh Poh Koon, Tang Choong Leo |
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Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1.
Journal of surgical oncology 2013 Dec 108 (7): 433-7. Lin-Hurtubise Kevin M, Yheulon Christopher G, Gagliano Ronald A, Lynch Henry |
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Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.
Oncology reports 2013 Dec 30 (6): 2909-16. Terui Hiroko, Tachikawa Tetsuhiko, Kakuta Miho, Nishimura Yoji, Yatsuoka Toshimasa, Yamaguchi Kensei, Yura Kei, Akagi Kiwa |
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Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
Familial cancer 2013 Dec 12 (4): 719-40. Casey Murray Joseph, Bewtra Chhanda, Lynch Henry T, Snyder Carrie, Stacy Mark, Watson Patri |
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Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.
International journal of colorectal disease 2013 Sep 28 (9): 1195-201. Pérez-Cabornero Lucía, Infante Mar, Velasco Eladio, Lastra Enrique, Miner Cristina, Durán Merced |
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Splice site mutations in mismatch repair genes and risk of cancer in the general population.
Familial cancer 2013 Sep 12 (3): 567-72. Thomsen Mette, Nordestgaard Børge G, Tybjærg-Hansen Anne, Bojesen Stig |
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Lynch Syndrome in high risk Ashkenazi Jews in Israel.
Familial cancer 2013 Aug . Goldberg Y, Kedar I, Kariiv R, Halpern N, Plesser M, Hubert A, Kaduri L, Sagi M, Lerer I, Abeliovich D, Hamburger T, Nissan A, Goldshmidt H, Solar I, Geva R, Strul H, Rosner G, Baris H, Levi Z, Peretz T |
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Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
Human mutation 2013 Jul 34 (7): 1026-34. Smith Christopher G, Naven Marc, Harris Rebecca, Colley James, West Hannah, Li Ning, Liu Yuan, Adams Richard, Maughan Timothy S, Nichols Laura, Kaplan Richard, Wagner Michael J, McLeod Howard L, Cheadle Jeremy |
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Scandinavian journal of gastroenterology 2013 Jun 48 (6): 672-8. Tanskanen Tomas, Gylfe Alexandra E, Katainen Riku, Taipale Minna, Renkonen-Sinisalo Laura, Mecklin Jukka-Pekka, Järvinen Heikki, Tuupanen Sari, Kilpivaara Outi, Vahteristo Pia, Aaltonen Lauri |
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Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.
Cellular oncology (Dordrecht) 2013 Jun 36 (3): 225-31. Fu Lei, Sheng Jian-qiu, Li Xiao-ou, Jin Peng, Mu Hong, Han Min, Huang Ji-sheng, Sun Zi-qin, Li Ai-qin, Wu Zi-tao, Li Shi-ro |
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Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
European journal of cancer (Oxford, England : 1990) 2013 May 49 (7): 1578-87. Win Aung Ko, Hopper John L, Buchanan Daniel D, Young Joanne P, Tenesa Albert, Dowty James G, Giles Graham G, Goldblatt Jack, Winship Ingrid, Boussioutas Alex, Young Graeme P, Parry Susan, Baron John A, Duggan David, Gallinger Steven, Newcomb Polly A, Haile Robert W, Le Marchand Loïc, Lindor Noralane M, Jenkins Mark |
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Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
The Journal of molecular diagnostics : JMD 2013 May 15 (3): 380-90. Pérez-Cabornero Lucia, Infante Mar, Velasco Eladio, Lastra Enrique, Miner Cristina, Durán Merced |
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Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.
Human mutation 2013 Mar . Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM |
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The spectrum of urological malignancy in Lynch syndrome.
Familial cancer 2013 Mar 12 (1): 57-63. Barrow P J, Ingham S, O'Hara C, Green K, McIntyre I, Lalloo F, Hill J, Evans D |
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Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome.
Journal of the National Cancer Institute 2013 Feb . Win AK, Lindor NM, Winship I, Tucker KM, Buchanan DD, Young JP, Rosty C, Leggett B, Giles GG, Goldblatt J, Macrae FA, Parry S, Kalady MF, Baron JA, Ahnen DJ, Marchand LL, Gallinger S, Haile RW, Newcomb PA, Hopper JL, Jenkins MA |
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Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers.
Annals of surgical oncology 2013 Jan . Win AK, Parry S, Parry B, Kalady MF, Macrae FA, Ahnen DJ, Young GP, Lipton L, Winship I, Boussioutas A, Young JP, Buchanan DD, Arnold J, Le Marchand L, Newcomb PA, Haile RW, Lindor NM, Gallinger S, Hopper JL, Jenkins MA |
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Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.
PloS one 2013 8 (4): e60233. Hu Fulan, Li Dandan, Wang Yibaina, Yao Xiaoping, Zhang Wencui, Liang Jing, Lin Chunqing, Ren Jiaojiao, Zhu Lin, Wu Zhiwei, Li Shuying, Li Ye, Zhao Xiaojuan, Cui Binbin, Dong Xinshu, Tian Suli, Zhao Yashua |
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Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
PloS one 2013 8 (3): e51240. Li Dandan, Hu Fulan, Wang Fan, Cui Binbin, Dong Xinshu, Zhang Wencui, Lin Chunqing, Li Xia, Wang Da, Zhao Yashua |
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Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
Familial cancer 2012 Dec 11 (4): 571-8. Serrano Miguel, Lage Pedro, Belga Sara, Filipe Bruno, Francisco Inês, Rodrigues Paula, Fonseca Ricardo, Chaves Paula, Claro Isabel, Albuquerque Cristina, Pereira António Di |
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Cancer risks for MLH1 and MSH2 mutation carriers.
Human mutation 2012 Dec . Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, Antill YC, Thibodeau SN, Casey G, Gallinger S, Le Marchand L, Newcomb PA, Haile RW, Young GP, James PA, Giles GG, Gunawardena SR, Leggett BA, Gattas M, Boussioutas A, Ahnen DJ, Baron JA, Parry S, Goldblatt J, Young JP, Hopper JL, Jenkins MA |
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Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
British journal of cancer 2012 Nov 107 (10): 1783-90. Pal T, Akbari M R, Sun P, Lee J-H, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers T A, McLaughlin J, Risch H A, Rosen B, Shaw P, Schildkraut J, Narod S |
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Missense mutations in MLH1, MSH2, KRAS, and APC genes in colorectal cancer patients in Malaysia.
Digestive diseases and sciences 2012 Nov 57 (11): 2863-72. Abdul Murad Nor Azian, Othman Zulhabri, Khalid Melati, Abdul Razak Zuraini, Hussain Rosniza, Nadesan Sukumar, Sagap Ismail, Mohamed Rose Isa, Wan Ngah Wan Zurinah, Jamal Rahm |
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Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.
Anticancer research 2012 Oct 32 (10): 4347-51. Valentin Mev Dominguez, Da Silva Felipe Carneiro, Santos Erika Maria Monteiro, Da Silva Sabrina Daniela, De Oliveira Ferreira Fabio, Aguiar Junior Samuel, Gomy Israel, Vaccaro Carlos, Redal Maria Ana, Della Valle Adriana, Sarroca Carlos, Rasmussen Lene Juel, Carraro Dirce Maria, Rossi Benedito Mau |
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Identification of Lynch syndrome among patients with colorectal cancer.
JAMA : the journal of the American Medical Association 2012 Oct 308 (15): 15. Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A |
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Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Oct . Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, García EG, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF |
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[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].
Revista médica de Chile 2012 Sep 140 (9): 1132-9. Wielandt Ana María, Zárate Alejandro J, Hurtado Claudia, Orellana Paulina, Alvarez Karin, Pinto Eliana, Contreras Luis, Corvalán Alejandro, Kronberg Udo, López-Köstner Francis |
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Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome.
Gynecologic oncology 2012 Aug . Yurgelun MB, Mercado R, Rosenblatt M, Dandapani M, Kohlmann W, Conrad P, Blanco A, Shannon KM, Chung DC, Terdiman J, Gruber SB, Garber JE, Syngal S, Stoffel EM |
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Risks of Primary Extracolonic Cancers Following Colorectal Cancer in Lynch Syndrome.
Journal of the National Cancer Institute 2012 Aug . Win AK, Lindor NM, Young JP, Macrae FA, Young GP, Williamson E, Parry S, Goldblatt J, Lipton L, Winship I, Leggett B, Tucker KM, Giles GG, Buchanan DD, Clendenning M, Rosty C, Arnold J, Levine AJ, Haile RW, Gallinger S, Marchand LL, Newcomb PA, Hopper JL, Jenkins MA |
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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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Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2012 Jun 33 (3): 857-64. Urso E, Agostini M, Pucciarelli S, Rugge M, Bertorelle R, Maretto I, Bedin C, D'Angelo E, Mescoli C, Zorzi M, Viel A, Bruttocao G, Ferraro B, Erroi F, Contin P, De Salvo G L, Nitti |
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Simplified identification of Lynch syndrome: a prospective, multicenter study.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2012 Jun 44 (6): 515-22. Bonnet Delphine, Selves Janick, Toulas Christine, Danjoux Marie, Duffas Jean Pierre, Portier Guillaume, Kirzin Sylvain, Ghouti Laurent, Carrère Nicolas, Suc Bertrand, Alric Laurent, Barange Karl, Buscail Louis, Chaubard Thierry, Imani Kamran, Guimbaud Rosi |
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The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.
Familial cancer 2012 Jun 11 (2): 243-7. Laitman Yael, Herskovitz Liron, Golan Talia, Kaufman Bella, Paluch Shani Shimon, Friedman Eit |
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DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.
Cancer epidemiology 2012 Apr 36 (2): 183-9. Reeves Stuart G, Meldrum Cliff, Groombridge Claire, Spigelman Allan, Suchy Janina, Kurzawski Grzegorz, Lubinski Jan, Scott Rodney |
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A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer.
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2012 Mar 14 (3): e80-9. Zhang R, Qin W, Xu G-L, Zeng F-F, Li C |
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Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Mar 30 (9): 958-64. Win Aung Ko, Young Joanne P, Lindor Noralane M, Tucker Katherine M, Ahnen Dennis J, Young Graeme P, Buchanan Daniel D, Clendenning Mark, Giles Graham G, Winship Ingrid, Macrae Finlay A, Goldblatt Jack, Southey Melissa C, Arnold Julie, Thibodeau Stephen N, Gunawardena Shanaka R, Bapat Bharati, Baron John A, Casey Graham, Gallinger Steven, Le Marchand Loïc, Newcomb Polly A, Haile Robert W, Hopper John L, Jenkins Mark |
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Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.
World journal of gastroenterology : WJG 2012 Feb 18 (8): 814-20. Zahary Mohd Nizam, Kaur Gurjeet, Abu Hassan Muhammad Radzi, Singh Harjinder, Naik Venkatesh R, Ankathil Ravindr |
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Evidence for breast cancer as an integral part of Lynch syndrome.
Genes, chromosomes & cancer 2012 Jan 51 (1): 83-91. Buerki Nicole, Gautier Lucienne, Kovac Michal, Marra Giancarlo, Buser Mauro, Mueller Hansjakob, Heinimann Ka |
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Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
Familial cancer 2011 Dec 10 (4): 641-7. Valentin Mev Dominguez, da Silva Felipe Carneiro, dos Santos Erika Maria Monteiro, Lisboa Bianca Garcia, de Oliveira Ligia Petrolini, Ferreira Fabio de Oliveira, Gomy Israel, Nakagawa Wilson Toshihiko, Aguiar Junior Samuel, Redal Mariana, Vaccaro Carlos, Valle Adriana Della, Sarroca Carlos, Carraro Dirce Maria, Rossi Benedito Mau |
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Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
Cancer 2011 Sep 117 (18): 4325-35. Bozzao Cristina, Lastella Patrizia, Ponz de Leon Maurizio, Pedroni Monica, Di Gregorio Carmela, D'Ovidio Francesco D, Resta Nicoletta, Prete Fernando, Guanti Ginevra, Stella Alessand |
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Validation microsatellite path score in a population-based cohort of patients with colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 Sep 29 (25): 3374-80. Bessa Xavier, Alenda Cristina, Paya Artemio, Álvarez Cristina, Iglesias Mar, Seoane Agustín, Dedeu Josep Maria, Abulí Anna, Ilzarbe Lucas, Navarro Gemma, Pellise Maria, Balaguer Francesc, Castellvi-Bel Sergi, Llor Xavier, Castells Antoni, Jover Rodrigo, Andreu Montserr |
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Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
Journal of medical genetics 2011 Aug 48 (8): 530-4. Win Aung Ko, Jenkins Mark A, Buchanan Daniel D, Clendenning Mark, Young Joanne P, Giles Graham G, Goldblatt Jack, Leggett Barbara A, Hopper John L, Thibodeau Stephen N, Lindor Noralane |
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Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.
British journal of cancer 2011 Jun 105 (1): 162-9. Win A K, Dowty J G, English D R, Campbell P T, Young J P, Winship I, Macrae F A, Lipton L, Parry S, Young G P, Buchanan D D, Martínez M E, Jacobs E T, Ahnen D J, Haile R W, Casey G, Baron J A, Lindor N M, Thibodeau S N, Newcomb P A, Potter J D, Le Marchand L, Gallinger S, Hopper J L, Jenkins M |
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Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
JAMA 2011 Jun 305 (22): 2304-10. Bonadona Valérie, Bonaïti Bernard, Olschwang Sylviane, Grandjouan Sophie, Huiart Laetitia, Longy Michel, Guimbaud Rosine, Buecher Bruno, Bignon Yves-Jean, Caron Olivier, Colas Chrystelle, Noguès Catherine, Lejeune-Dumoulin Sophie, Olivier-Faivre Laurence, Polycarpe-Osaer Florence, Nguyen Tan Dat, Desseigne Françoise, Saurin Jean-Christophe, Berthet Pascaline, Leroux Dominique, Duffour Jacqueline, Manouvrier Sylvie, Frébourg Thierry, Sobol Hagay, Lasset Christine, Bonaïti-Pellié Catherine, |
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DNA repair gene polymorphisms and tobacco smoking in the risk for colorectal adenomas.
Carcinogenesis 2011 Jun 32 (6): 882-7. Gao Ying, Hayes Richard B, Huang Wen-Yi, Caporaso Neil E, Burdette Laurie, Yeager Meredith, Chanock Stephen J, Berndt Sonja |
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Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2011 Jun 9 (6): 497-502. Limburg Paul J, Harmsen William S, Chen Helen H, Gallinger Steven, Haile Robert W, Baron John A, Casey Graham, Woods Michael O, Thibodeau Stephen N, Lindor Noralane |
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Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy.
The pharmacogenomics journal 2011 Jun 11 (3): 214-26. Cecchin E, Agostini M, Pucciarelli S, De Paoli A, Canzonieri V, Sigon R, De Mattia E, Friso M L, Biason P, Visentin M, Nitti D, Toffoli |
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Rapid development of colorectal neoplasia in patients with Lynch syndrome.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2011 Apr 9 (4): 340-3. Edelstein Daniel L, Axilbund Jennifer, Baxter Melanie, Hylind Linda M, Romans Katharine, Griffin Constance A, Cruz-Correa Marcia, Giardiello Francis |
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A comparative study of quantitative immunohistochemistry and quantum dot immunohistochemistry for mutation carrier identification in Lynch syndrome.
Journal of clinical pathology 2011 Mar 64 (3): 208-14. Barrow Emma, Evans D Gareth, McMahon Ray, Hill James, Byers Richa |
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Integrated analysis of unclassified variants in mismatch repair genes.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Feb 13 (2): 115-24. Pastrello Chiara, Pin Elisa, Marroni Fabio, Bedin Chiara, Fornasarig Mara, Tibiletti Maria Grazia, Oliani Cristina, Ponz de Leon Maurizio, Urso Emanuele Damiano, Della Puppa Lara, Agostini Marco, Viel Alessand |
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[Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2010 Dec 32 (12): 1241-6. Li Hui-Chen, Feng Hui-Yuan, Zhang Xi-Peng, Liu Rui, Ma Dong-Wang, Qin Hai, Zhou Yi, Yu L |
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Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.
Journal of bioinformatics and computational biology 2010 Dec 8 Suppl 1 111-25. Wei Wenqian, Liu Lei, Chen Jian, Jin Ke, Jiang Fan, Liu Fangqi, Fan Rong, Cheng Zhe, Shen Meng, Xue Chenyi, Cai Sanjun, Xu Ye, Nan Pe |
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Screening for common copy-number variants in cancer genes.
Cancer genetics and cytogenetics 2010 Dec 203 (2): 316-23. Tyson Jess, Majerus Tamsin M O, Walker Susan, Armour John A |
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[Association of IVS10+12G>A polymorphism in hMSH2 gene with colorectal cancer in Chinese].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Oct 27 (5): 579-83. Zhou Jian-nong, Wang De-qiang, Song Lei, Li Su-ping, Ding Jian-hua, Ma Guo-jian, Chen Sen-qing, Zhang Xiao-m |
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Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
Clinical genetics 2010 Aug 78 (2): 186-90. Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón y Cajal T, Reñé Josep M, Blanco I, Castells A, Capellà |
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Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
Journal of medical genetics 2010 Jul 47 (7): 464-70. van der Post R S, Kiemeney L A, Ligtenberg M J L, Witjes J A, Hulsbergen-van de Kaa C A, Bodmer D, Schaap L, Kets C M, van Krieken J H J M, Hoogerbrugge |
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The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.
Human genetics 2010 Jul 128 (1): 89-101. Hawken Steven J, Greenwood Celia M T, Hudson Thomas J, Kustra Rafal, McLaughlin John, Yang Quanhe, Zanke Brent W, Little Juli |
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