HuGE Literature Finder
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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PloS one 2022 1 17 (1): e0262419. Fidalgo Felipe, Torrezan Giovana Tardin, Sá Bianca Costa Soares de, Barros Bruna Durães de Figueiredo, Moredo Luciana Facure, Valieris Renan, de Souza Sandro J, Duprat João Pereira, Krepischi Ana Cristina Victorino, Carraro Dirce Mar |
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
![]() Communications biology 2021 5 4 (1): 519. Chang Xuling, Gurung Resham L, Wang Ling, Jin Aizhen, Li Zheng, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, Meah Wee Yang, Sim Kar Seng, Lim Weng Khong, Davila Sonia, Tan Patrick, Teo Jing Xian, Yeo Khung Keong, M Yiamunaa, Liu Sylvia, Lim Su Chi, Liu Jianjun, van Dam Rob M, Friedlander Yechiel, Koh Woon-Puay, Yuan Jian-Min, Khor Chiea Chuen, Heng Chew-Kiat, Dorajoo Rajkum |
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020 Oct 8 (10): . Stolarova Lenka, Jelinkova Sandra, Storchova Radka, Machackova Eva, Zemankova Petra, Vocka Michal, Kodet Ondrej, Kral Jan, Cerna Marta, Volkova Zuzana, Janatova Marketa, Soukupova Jana, Stranecky Viktor, Dundr Pavel, Foretova Lenka, Macurek Libor, Kleiblova Petra, Kleibl Zden |
Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications. International journal of cancer 2020 Jul . Pérez-Carretero Claudia, Hernández-Sánchez María, González Teresa, Quijada-Álamo Miguel, Martín-Izquierdo Marta, Hernández-Sánchez Jesús-María, Vidal María-Jesús, García de Coca Alfonso, Aguilar Carlos, Vargas-Pabón Manuel, Alonso Sara, Sierra Magdalena, Rubio-Martínez Araceli, Dávila Julio, Díaz-Valdés José R, Queizán José-Antonio, Hernández-Rivas José-Ángel, Benito Rocío, Rodríguez-Vicente Ana E, Hernández-Rivas Jesús-Mar |
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
![]() Nature genetics 2020 Jun . Ishigaki Kazuyoshi, Akiyama Masato, Kanai Masahiro, Takahashi Atsushi, Kawakami Eiryo, Sugishita Hiroki, Sakaue Saori, Matoba Nana, Low Siew-Kee, Okada Yukinori, Terao Chikashi, Amariuta Tiffany, Gazal Steven, Kochi Yuta, Horikoshi Momoko, Suzuki Ken, Ito Kaoru, Koyama Satoshi, Ozaki Kouichi, Niida Shumpei, Sakata Yasushi, Sakata Yasuhiko, Kohno Takashi, Shiraishi Kouya, Momozawa Yukihide, Hirata Makoto, Matsuda Koichi, Ikeda Masashi, Iwata Nakao, Ikegawa Shiro, Kou Ikuyo, Tanaka Toshihiro, Nakagawa Hidewaki, Suzuki Akari, Hirota Tomomitsu, Tamari Mayumi, Chayama Kazuaki, Miki Daiki, Mori Masaki, Nagayama Satoshi, Daigo Yataro, Miki Yoshio, Katagiri Toyomasa, Ogawa Osamu, Obara Wataru, Ito Hidemi, Yoshida Teruhiko, Imoto Issei, Takahashi Takashi, Tanikawa Chizu, Suzuki Takao, Sinozaki Nobuaki, Minami Shiro, Yamaguchi Hiroki, Asai Satoshi, Takahashi Yasuo, Yamaji Ken, Takahashi Kazuhisa, Fujioka Tomoaki, Takata Ryo, Yanai Hideki, Masumoto Akihide, Koretsune Yukihiro, Kutsumi Hiromu, Higashiyama Masahiko, Murayama Shigeo, Minegishi Naoko, Suzuki Kichiya, Tanno Kozo, Shimizu Atsushi, Yamaji Taiki, Iwasaki Motoki, Sawada Norie, Uemura Hirokazu, Tanaka Keitaro, Naito Mariko, Sasaki Makoto, Wakai Kenji, Tsugane Shoichiro, Yamamoto Masayuki, Yamamoto Kazuhiko, Murakami Yoshinori, Nakamura Yusuke, Raychaudhuri Soumya, Inazawa Johji, Yamauchi Toshimasa, Kadowaki Takashi, Kubo Michiaki, Kamatani Yoichi |
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Human mutation 2020 May . Belhadj Sami, Terradas Mariona, Munoz-Torres Pau M, Aiza Gemma, Navarro Matilde, Capellá Gabriel, Valle Lau |
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 |
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
![]() American journal of human genetics 2020 Feb . Li Chen, Stoma Svetlana, Lotta Luca A, Warner Sophie, Albrecht Eva, Allione Alessandra, Arp Pascal P, Broer Linda, Buxton Jessica L, Da Silva Couto Alves Alexessander, Deelen Joris, Fedko Iryna O, Gordon Scott D, Jiang Tao, Karlsson Robert, Kerrison Nicola, Loe Taylor K, Mangino Massimo, Milaneschi Yuri, Miraglio Benjamin, Pervjakova Natalia, Russo Alessia, Surakka Ida, van der Spek Ashley, Verhoeven Josine E, Amin Najaf, Beekman Marian, Blakemore Alexandra I, Canzian Federico, Hamby Stephen E, Hottenga Jouke-Jan, Jones Peter D, Jousilahti Pekka, Mägi Reedik, Medland Sarah E, Montgomery Grant W, Nyholt Dale R, Perola Markus, Pietiläinen Kirsi H, Salomaa Veikko, Sillanpää Elina, Suchiman H Eka, van Heemst Diana, Willemsen Gonneke, Agudo Antonio, Boeing Heiner, Boomsma Dorret I, Chirlaque Maria-Dolores, Fagherazzi Guy, Ferrari Pietro, Franks Paul, Gieger Christian, Eriksson Johan Gunnar, Gunter Marc, Hägg Sara, Hovatta Iiris, Imaz Liher, Kaprio Jaakko, Kaaks Rudolf, Key Timothy, Krogh Vittorio, Martin Nicholas G, Melander Olle, Metspalu Andres, Moreno Concha, Onland-Moret N Charlotte, Nilsson Peter, Ong Ken K, Overvad Kim, Palli Domenico, Panico Salvatore, Pedersen Nancy L, Penninx Brenda W J H, Quirós J Ramón, Jarvelin Marjo Riitta, Rodríguez-Barranco Miguel, Scott Robert A, Severi Gianluca, Slagboom P Eline, Spector Tim D, Tjonneland Anne, Trichopoulou Antonia, Tumino Rosario, Uitterlinden André G, van der Schouw Yvonne T, van Duijn Cornelia M, Weiderpass Elisabete, Denchi Eros Lazzerini, Matullo Giuseppe, Butterworth Adam S, Danesh John, Samani Nilesh J, Wareham Nicholas J, Nelson Christopher P, Langenberg Claudia, Codd Very |
Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study. PloS one 2020 15 (2): e0228887. Richard Melissa A, Lupo Philip J, Morton Lindsay M, Yasui Yutaka A, Sapkota Yadav A, Arnold Michael A, Aubert Geraldine, Neglia Joseph P, Turcotte Lucie M, Leisenring Wendy M, Sampson Joshua N, Chanock Stephen J, Hudson Melissa M, Armstrong Gregory T, Robison Leslie L, Bhatia Smita, Gramatges Maria Moni |
Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants. Melanoma research 2019 Sep . Li Christopher, Liu Tong, Tavtigian Sean V, Boucher Kenneth, Kohlmann Wendy, Cannon-Albright Lisa, Grossman Dougl |
Telomere structure and maintenance gene variants and risk of five cancer types. International journal of cancer 2016 Dec 139 (12): 2655-2670. Karami Sara, Han Younghun, Pande Mala, Cheng Iona, Rudd James, Pierce Brandon L, Nutter Ellen L, Schumacher Fredrick R, Kote-Jarai Zsofia, Lindstrom Sara, Witte John S, Fang Shenying, Han Jiali, Kraft Peter, Hunter David J, Song Fengju, Hung Rayjean J, McKay James, Gruber Stephen B, Chanock Stephen J, Risch Angela, Shen Hongbing, Haiman Christopher A, Boardman Lisa, Ulrich Cornelia M, Casey Graham, Peters Ulrike, Amin Al Olama Ali, Berchuck Andrew, Berndt Sonja I, Bezieau Stephane, Brennan Paul, Brenner Hermann, Brinton Louise, Caporaso Neil, Chan Andrew T, Chang-Claude Jenny, Christiani David C, Cunningham Julie M, Easton Douglas, Eeles Rosalind A, Eisen Timothy, Gala Manish, Gallinger Steven J, Gayther Simon A, Goode Ellen L, Grönberg Henrik, Henderson Brian E, Houlston Richard, Joshi Amit D, Küry Sébastien, Landi Mari T, Le Marchand Loic, Muir Kenneth, Newcomb Polly A, Permuth-Wey Jenny, Pharoah Paul, Phelan Catherine, Potter John D, Ramus Susan J, Risch Harvey, Schildkraut Joellen, Slattery Martha L, Song Honglin, Wentzensen Nicolas, White Emily, Wiklund Fredrik, Zanke Brent W, Sellers Thomas A, Zheng Wei, Chatterjee Nilanjan, Amos Christopher I, Doherty Jennifer A, |
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. Blood 2016 (19): 2319-2326. Speedy Helen E, Kinnersley Ben, Chubb Daniel, Broderick Peter, Law Philip J, Litchfield Kevin, Jayne Sandrine, Dyer Martin J S, Dearden Claire, Follows George A, Catovsky Daniel, Houlston Richard |
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. Cancer letters 2016 May . Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi L C, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani |
POLE mutations in families predisposed to cutaneous melanoma. Familial cancer 2015 Aug . Aoude Lauren G, Heitzer Ellen, Johansson Peter, Gartside Michael, Wadt Karin, Pritchard Antonia L, Palmer Jane M, Symmons Judith, Gerdes Anne-Marie, Montgomery Grant W, Martin Nicholas G, Tomlinson Ian, Kearsey Stephen, Hayward Nicholas |
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. Journal of the National Cancer Institute 2015 Feb 107 (2): . Aoude Lauren G, Pritchard Antonia L, Robles-Espinoza Carla Daniela, Wadt Karin, Harland Mark, Choi Jiyeon, Gartside Michael, Quesada Víctor, Johansson Peter, Palmer Jane M, Ramsay Andrew J, Zhang Xijun, Jones Kristine, Symmons Judith, Holland Elizabeth A, Schmid Helen, Bonazzi Vanessa, Woods Susan, Dutton-Regester Ken, Stark Mitchell S, Snowden Helen, van Doorn Remco, Montgomery Grant W, Martin Nicholas G, Keane Thomas M, López-Otín Carlos, Gerdes Anne-Marie, Olsson Håkan, Ingvar Christian, Borg Ake, Gruis Nelleke A, Trent Jeffrey M, Jönsson Göran, Bishop D Timothy, Mann Graham J, Newton-Bishop Julia A, Brown Kevin M, Adams David J, Hayward Nicholas |
Genetic polymorphisms in telomere pathway genes, telomere length, and breast cancer survival. Breast cancer research and treatment 2012 Jul 134 (1): 393-400. Shen Jing, Gammon Marilie D, Terry Mary Beth, Bradshaw Patrick T, Wang Qiao, Teitelbaum Susan L, Neugut Alfred I, Santella Regina |
Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres. Thyroid : official journal of the American Thyroid Association 2012 Apr 22 (4): 363-8. Cantara Silvia, Capuano Serena, Capezzone Marco, Benigni Michele, Pisu Milena, Marchisotta Stefania, Pacini Fur |
Worldwide genetic structure in 37 genes important in telomere biology. Heredity 2012 Feb 108 (2): 124-33. Mirabello L, Yeager M, Chowdhury S, Qi L, Deng X, Wang Z, Hutchinson A, Savage S |
Genetic variation in telomere maintenance genes, telomere length and breast cancer risk. PloS one 2012 7 (9): e44308. Shen Jing, Terry Mary Beth, Liao Yuyan, Gurvich Irina, Wang Qiao, Senie Ruby T, Santella Regina |
Genetic variants of 11 telomere-pathway gene loci and the risk of incident type 2 diabetes mellitus: the Women's Genome Health Study. Atherosclerosis 2011 Sep 218 (1): 144-6. Zee Robert Y L, Ridker Paul M, Chasman Daniel |
Genetic variants in telomere-maintaining genes and skin cancer risk. Human genetics 2011 Mar 129 (3): 247-53. Nan Hongmei, Qureshi Abrar A, Prescott Jennifer, De Vivo Immaculata, Han Jia |
Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. Clinica chimica acta; international journal of clinical chemistry 2011 Jan 412 (1-2): 199-202. Zee Robert Y L, Ridker Paul M, Chasman Daniel |
Telomere length and genetic analyses in population-based studies of endometrial cancer risk. Cancer 2010 Sep 116 (18): 4275-82. Prescott Jennifer, McGrath Monica, Lee I-Min, Buring Julie E, De Vivo Immacula |
Multiple genetic variants in telomere pathway genes and breast cancer risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010 Jan 19 (1): 219-28. Shen Jing, Gammon Marilie D, Wu Hui-Chen, Terry Mary Beth, Wang Qiao, Bradshaw Patrick T, Teitelbaum Susan L, Neugut Alfred I, Santella Regina |
Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility. Lung cancer (Amsterdam, Netherlands) 2009 Nov 66 (2): 157-61. Hosgood H Dean, Cawthon Richard, He Xingzhou, Chanock Stephen, Lan Qi |
Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. European journal of cancer (Oxford, England : 1990) 2009 Nov 45 (17): 3008-16. Varadi Verena, Brendle Annika, Brandt Andreas, Johansson Robert, Enquist Kerstin, Henriksson Roger, Svenson Ulrika, Tavelin Björn, Roos Göran, Hemminki Kari, Lenner Per, Försti As |
Polymorphisms in telomere maintenance genes and risk of lung cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 Oct 18 (10): 2773-81. Choi Jin Eun, Kang Hyo-Gyoung, Jang Jin Sung, Choi Yi Young, Kim Min Jung, Kim Jong Sik, Jeon Hyo-Sung, Lee Won Kee, Cha Sung Ick, Kim Chang Ho, Kam Sin, Jung Tae Hoon, Park Jae Yo |
Genetic variation in five genes important in telomere biology and risk for breast cancer. British journal of cancer 2007 Sep 97 (6): 832-6. Savage S A, Chanock S J, Lissowska J, Brinton L A, Richesson D, Peplonska B, Bardin-Mikolajczak A, Zatonski W, Szeszenia-Dabrowska N, Garcia-Closas |
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