HuGE Literature Finder
Records 1-30
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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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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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[Lynch syndrome, Muir Torre variant: 2 cases].
Rev Gastroenterol Peru 2016 Jan-Mar (36): 81-5. Castro-Mujica María Del Carmen, Barletta-Carrillo Claudia, Acosta-Aliaga Marisa, Montenegro-Garreaud Xime |
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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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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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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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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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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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Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
JAMA dermatology 2014 Dec 150 (12): 1315-21. Everett Jessica N, Raymond Victoria M, Dandapani Monica, Marvin Monica, Kohlmann Wendy, Chittenden Anu, Koeppe Erika, Gustafson Shanna L, Else Tobias, Fullen Douglas R, Johnson Timothy M, Syngal Sapna, Gruber Stephen B, Stoffel Elena |
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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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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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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 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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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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Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
European urology 2013 Feb 63 (2): 379-85. Skeldon Sean C, Semotiuk Kara, Aronson Melyssa, Holter Spring, Gallinger Steven, Pollett Aaron, Kuk Cynthia, van Rhijn Bas, Bostrom Peter, Cohen Zane, Fleshner Neil E, Jewett Michael A, Hanna Sally, Shariat Shahrokh F, Van Der Kwast Theodorus H, Evans Andrew, Catto Jim, Bapat Bharati, Zlotta Alexandre |
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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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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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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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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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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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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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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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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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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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CHEK2 mutations and HNPCC-related colorectal cancer.
International journal of cancer. Journal international du cancer 2010 Jun 126 (12): 3005-9. Suchy Janina, Cybulski Cezary, Woko?orczyk Dominika, Oszurek Oleg, Górski Bohdan, Debniak Tadeusz, Jakubowska Anna, Gronwald Jacek, Huzarski Tomasz, Byrski Tomasz, Dziuba Ireneusz, Gogacz Marek, Wi?niowski Rafa?, Wandzel Piotr, Banaszkiewicz Zbigniew, Kurzawski Grzegorz, K?adny Józef, Narod Steven A, Lubi?ski J |
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One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome.
Gastroenterology 2010 Jun 138 (7): 2300-6. Vasen Hans F A, Abdirahman Mohamed, Brohet Richard, Langers Alexandra M J, Kleibeuker Jan H, van Kouwen Mariette, Koornstra Jan Jacob, Boot Henk, Cats Annemieke, Dekker Evelien, Sanduleanu Silvia, Poley Jan-Werner, Hardwick James C H, de Vos Tot Nederveen Cappel Wouter H, van der Meulen-de Jong Andrea E, Tan T Gie, Jacobs Maarten A J M, Mohamed Faig Lall A, de Boer Sijbrand Y, van de Meeberg Paul C, Verhulst Marie-Louise, Salemans Jan M, van Bentem Nico, Westerveld B Dik, Vecht Juda, Nagengast Fokko |
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Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands.
Gastroenterology 2010 Feb 138 (2): 487-92. Capelle Lisette G, Van Grieken Nicole C T, Lingsma Hester F, Steyerberg Ewout W, Klokman Willem J, Bruno Marco J, Vasen Hans F A, Kuipers Ernst |
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Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds.
Journal of medical genetics 2010 Feb 47 (2): 99-102. Grindedal Eli Marie, Renkonen-Sinisalo Laura, Vasen Hans, Evans Gareth, Sala Paola, Blanco Ignacio, Gronwald Jacek, Apold Jaran, Eccles Diana M, Sánchez Angel Alonso, Sampson Julian, Järvinen Heikki J, Bertario Lucio, Crawford Gillian C, Stormorken Astrid Tenden, Maehle Lovise, Moller P |
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Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome.
Gastroenterology 2009 Nov 137 (5): 1621-7. Stoffel Elena, Mukherjee Bhramar, Raymond Victoria M, Tayob Nabihah, Kastrinos Fay, Sparr Jennifer, Wang Fei, Bandipalliam Prathap, Syngal Sapna, Gruber Stephen |
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Risk of pancreatic cancer in families with Lynch syndrome.
JAMA 2009 Oct 302 (16): 1790-5. Kastrinos Fay, Mukherjee Bhramar, Tayob Nabihah, Wang Fei, Sparr Jennifer, Raymond Victoria M, Bandipalliam Prathap, Stoffel Elena M, Gruber Stephen B, Syngal Sap |
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Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009 Oct 27 (28): 4793-7. Järvinen Heikki J, Renkonen-Sinisalo Laura, Aktán-Collán Katja, Peltomäki Päivi, Aaltonen Lauri A, Mecklin Jukka-Pek |
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Germ-line mutations in mismatch repair genes associated with prostate cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 Sep 18 (9): 2460-7. Grindedal Eli Marie, Møller Pål, Eeles Ros, Stormorken Astrid Tenden, Bowitz-Lothe Inger Marie, Landrø Stefan Magnus, Clark Neal, Kvåle Rune, Shanley Susan, Maehle Lovi |
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Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.
International journal of cancer. Journal international du cancer 2009 Jul 125 (1): 78-83. Shi Zumin, Johnstone Daniel, Talseth-Palmer Bente A, Evans Tiffany-Jane, Spigelman Allan D, Groombridge Claire, Milward Elizabeth A, Olynyk John K, Suchy Janina, Kurzawski Grzegorz, Lubinski Jan, Scott Rodney |
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Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
Clinical genetics 2009 Apr 75 (4): 334-45. Tang R, Hsiung C, Wang J-Y, Lai C-H, Chien H-T, Chiu L-L, Liu C-T, Chen H-H, Wang H-M, Chen S-X, Hsieh L-L, |
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PMS2 involvement in patients suspected of Lynch syndrome.
Genes, chromosomes & cancer 2009 Apr 48 (4): 322-9. Niessen Renée C, Kleibeuker Jan H, Westers Helga, Jager Paul O J, Rozeveld Dennie, Bos Krista K, Boersma-van Ek Wytske, Hollema Harry, Sijmons Rolf H, Hofstra Robert M |
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Prediction of Lynch syndrome in consecutive patients with colorectal cancer.
Journal of the National Cancer Institute 2009 Mar 101 (5): 331-40. Green Roger C, Parfrey Patrick S, Woods Michael O, Younghusband H Banfie |
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Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.
Clinical genetics 2009 Feb 75 (2): 141-9. Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, Hill J, Evans D |
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Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.
World journal of gastroenterology : WJG 2009 Feb 15 (8): 983-9. Sheng Jian-Qiu, Zhang Hong, Ji Min, Fu Lei, Mu Hong, Zhang Ming-Zhi, Huang Ji-Sheng, Han Min, Li Ai-Qin, Wei Zhi, Sun Zi-Qin, Wu Zi-Tao, Xia Chang-Hong, Li Shi-Ro |
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Role for genetic anticipation in Lynch syndrome.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009 Jan 27 (3): 360-4. Nilbert Mef, Timshel Susanne, Bernstein Inge, Larsen Kla |
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Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
Familial cancer 2009 8 (2): 85-94. Yap Hui-Ling, Chieng Wei-Shieng, Lim Jasmine Rui-Chen, Lim Robert Seng-Cheong, Soo Ross, Guo Jiayi, Lee Soo-Ch |
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Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.
Familial cancer 2009 8 (4): 421-9. Berginc Gasper, Bracko Matej, Ravnik-Glavac Metka, Glavac Damj |
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Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening.
The American journal of gastroenterology 2008 Nov 103 (11): 2825-35; quiz 2836. Julié Catherine, Trésallet Christophe, Brouquet Antoine, Vallot Céline, Zimmermann Ute, Mitry Emmanuel, Radvanyi François, Rouleau Etienne, Lidereau Rosette, Coulet Florence, Olschwang Sylviane, Frébourg Thierry, Rougier Philippe, Nordlinger Bernard, Laurent-Puig Pierre, Penna Christophe, Boileau Catherine, Franc Brigitte, Muti Christine, Hofmann-Radvanyi Hélè |
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IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer.
International journal of cancer. Journal international du cancer 2008 Sep 123 (6): 1339-43. Reeves Stuart G, Rich Dominique, Meldrum Cliff J, Colyvas Kim, Kurzawski Grzegorz, Suchy Janina, Lubinski Jan, Scott Rodney |
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Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer.
Cancer science 2008 Sep 99 (9): 1715-9. Hirai Y, Banno K, Suzuki M, Ichikawa Y, Udagawa Y, Sugano K, Miki |
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Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 Aug 17 (8): 2044-51. Kastrinos Fay, Stoffel Elena M, Balmaña Judith, Steyerberg Ewout W, Mercado Rowena, Syngal Sap |
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[Mutation of hMLH1 and hMSH2 genes in hereditary nonpolyposis colorectal cancer: analysis of 76 probands].
Zhonghua yi xue za zhi 2008 Jul 88 (28): 1983-5. Fu Lei, Sheng Jian-qiu, Sun Zi-qin, Han Min, Huang Ji-sheng, Mu Hong, Han Wen-liang, Niu Hong-li, Li Ai-qin, Wu Zi-tao, Li Shi-ro |
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Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations.
Clinical genetics 2008 Jun . Barrow E, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, Hill J, Evans D |
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The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
BMC medical genetics 2008 9 52. Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjønneland A, Olsen A, Syvänen AC, Andersen CL, Orntoft TF |
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Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).
Familial cancer 2008 7 (2): 163-72. Geary Johanne, Sasieni Peter, Houlston Richard, Izatt Louise, Eeles Ros, Payne Stewart J, Fisher Samantha, Hodgson Shirley |
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Mismatch repair gene mutations in Chinese HNPCC patients.
Cytogenetic and genome research 2008 122 (1): 22-7. Sheng J Q, Fu L, Sun Z Q, Huang J S, Han M, Mu H, Zhang H, Zhang Y Z, Zhang M Z, Li A Q, Wu Z T, Han Y, Li S |
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Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families.
Acta obstetricia et gynecologica Scandinavica 2008 87 (11): 1129-35. Boilesen Astrid Elisabeth Bruun, Bisgaard Marie Luise, Bernstein In |
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The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.
Cancer letters 2007 Jul 252 (1): 55-64. Krüger Stefan, Engel Christoph, Bier Andrea, Silber Ann-Sophie, Görgens Heike, Mangold Elisabeth, Pagenstecher Constanze, Holinski-Feder Elke, von Knebel Doeberitz Magnus, Royer-Pokora Brigitte, Dechant Stefan, Pox Christian, Rahner Nils, Müller Annegret, Schackert Hans K, |
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[Screening the hereditary nonpolyposis colorectal cancer by revised Bethesda guideline: a cohort study of 110 cases].
Zhonghua yi xue za zhi 2007 Jun 87 (21): 1445-7. Jin Hei-Ying, Ding Yi-Jiang, Liu Xiu-Fang, Yang Bo-Lin, Lai Ren-Sheng, Ni Min, Ge Yong-She |
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Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer.
Scandinavian journal of gastroenterology 2007 Jun 42 (6): 746-53. de Leon Maurizio Ponz, Benatti Piero, Di Gregorio Carmela, Losi Lorena, Pedroni Monica, Ponti Giovanni, Genuardi Maurizio, Viel Alessandra, Lucci-Cordisco Emanuela, Rossi Giuseppina, Roncucci Lu |
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Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Journal of the National Cancer Institute 2007 Feb 99 (4): 291-9. Lagerstedt Robinson Kristina, Liu Tao, Vandrovcova Jana, Halvarsson Britta, Clendenning Mark, Frebourg Thierry, Papadopoulos Nickolas, Kinzler Kenneth W, Vogelstein Bert, Peltomäki Päivi, Kolodner Richard D, Nilbert Mef, Lindblom Anni |
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A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations.
Disease markers 2007 23 (3): 179-87. Pedroni M, Roncari B, Maffei S, Losi L, Scarselli A, Di Gregorio C, Marino M, Roncucci L, Benatti P, Ponti G, Rossi G, Menigatti M, Viel A, Genuardi M, de Leon M Po |
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Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
Gut 2006 Dec 55 (12): 1781-8. Niessen R C, Berends M J W, Wu Y, Sijmons R H, Hollema H, Ligtenberg M J L, de Walle H E K, de Vries E G E, Karrenbeld A, Buys C H C M, van der Zee A G J, Hofstra R M W, Kleibeuker J |
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Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2006 Sep 24 (26): 4285-92. Goecke Timm, Schulmann Karsten, Engel Christoph, Holinski-Feder Elke, Pagenstecher Constanze, Schackert Hans K, Kloor Matthias, Kunstmann Erdmute, Vogelsang Holger, Keller Gisela, Dietmaier Wolfgang, Mangold Elisabeth, Friedrichs Nicolaus, Propping Peter, Krüger Stefan, Gebert Johannes, Schmiegel Wolff, Rueschoff Josef, Loeffler Markus, Moeslein Gabriela, |
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