Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: Syndrome and PIK3CA[original query] |
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Molecular pathogenesis of endometrial cancers in patients with Lynch syndrome. Cancer 2013 Aug 119 (16): 3027-33. Huang Marilyn, Djordjevic Bojana, Yates Melinda S, Urbauer Diana, Sun Charlotte, Burzawa Jennifer, Daniels Molly, Westin Shannon N, Broaddus Russell, Lu Kar |
Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas. International journal of cancer. Journal international du cancer 2013 Dec 133 (11): 2596-608. Niskakoski Anni, Kaur Sippy, Renkonen-Sinisalo Laura, Lassus Heini, Järvinen Heikki J, Mecklin Jukka-Pekka, Bützow Ralf, Peltomäki Päi |
Genetic mechanisms in interval colon cancers. Digestive diseases and sciences 2014 Sep 59 (9): 2255-63. Richter James M, Pino Maria Simona, Austin Thomas R, Campbell Emily, Szymonifka Jackie, Russo Andrea L, Hong Theodore S, Borger Darrell, Iafrate A John, Chung Daniel |
Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey. Genetic testing and molecular biomarkers 2015 Jul 19 (7): 353-8. Ekinci Sadiye, Ilgin-Ruhi Hatice, Dogan Mutlu, Gursoy Semin, Dizbay-Sak Serpil, Demirkazik Ahmet, Tukun Ajl |
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes. Gastroenterology 2016 Jun . Cohen Stacey A, Turner Emily H, Beightol Mallory B, Jacobson Angela, Gooley Ted A, Salipante Stephen J, Haraldsdottir Sigurdis, Smith Christina, Scroggins Sheena, Tait Jonathan F, Grady William M, Lin Edward H, Cohn David E, Goodfellow Paul J, Arnold Mark W, de la Chapelle Albert, Pearlman Rachel, Hampel Heather, Pritchard Colin |
Molecular and Clinicopathological Differences by Age at the Diagnosis of Colorectal Cancer. International journal of molecular sciences 2017 Jul 18 (7): . Chang Chu-Cheng, Lin Pei-Ching, Lin Chun-Chi, Lan Yuan-Tzu, Lin Hung-Hsin, Lin Chien-Hsing, Yang Shung-Haur, Liang Wen-Yi, Chen Wei-Shone, Jiang Jeng-Kai, Lin Jen-Kou, Chang Shih-Chi |
Local recurrences at the anastomotic area are clonally related to the primary tumor in sporadic colorectal carcinoma. Oncotarget 2017 Jun 8 (26): 42487-42494. Vakiani Efsevia, Shah Ronak H, Berger Michael F, Makohon-Moore Alvin P, Reiter Johannes G, Ostrovnaya Irina, Attiyeh Marc A, Cercek Andrea, Shia Jinru, Iacobuzio-Donahue Christine A, Solit David B, Weiser Martin |
Molecular Testing for Gastrointestinal Cancer. Journal of pathology and translational medicine 2017 Feb . Lee Hye Seung, Kim Woo Ho, Kwak Yoonjin, Koh Jiwon, Bae Jeong Mo, Kim Kyoung-Mee, Chang Mee Soo, Han Hye Seung, Kim Joon Mee, Kim Hwal Woong, Chang Hee Kyung, Choi Young Hee, Park Ji Y, Gu Mi Jin, Lhee Min Jin, Kim Jung Yeon, Kim Hee Sung, Cho Mee-Yon, , |
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. Clinical genetics 2017 12 93 (5): 1075-1080. Michel M E, Konczyk D J, Yeung K S, Murillo R, Vivero M P, Hall A M, Zurakowski D, Adams D, Gupta A, Huang A Y, Chung B H Y, Warman M |
Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO). International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2018 Aug . Mirkovic Jelena, Dong Fei, Sholl Lynette M, Garcia Elizabeth, Lindeman Neal, MacConaill Laura, Crum Christopher P, Nucci Marisa R, McCluggage W Glenn, Howitt Brooke |
Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype. Breast cancer research and treatment 2018 Jun . Yap Yoon-Sim, Munusamy Prabhakaran, Lim Cindy, Chan Claire H T, Prawira Aldo, Loke Sau-Yeen, Lim Swee-Ho, Ong Kong-Wee, Yong Wei-Sean, Ng Sarah B H, Tan Iain B H, Callen David F, Lim Jeffrey C T, Thike Aye-Aye, Tan Puay-Hoon, Lee Ann S |
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2018 2 20 (8): 882-889. Rodriguez-Laguna Lara, Ibañez Kristina, Gordo Gema, Garcia-Minaur Sixto, Santos-Simarro Fernando, Agra Noelia, Vallespín Elena, Fernández-Montaño Victoria E, Martín-Arenas Rubén, Del Pozo Ángela, González-Pecellín Héctor, Mena Rocío, Rueda-Arenas Inmaculada, Gomez María V, Villaverde Cristina, Bustamante Ana, Ayuso Carmen, Ruiz-Perez Víctor L, Nevado Julián, Lapunzina Pablo, Lopez-Gutierrez Juan C, Martinez-Glez Vict |
The molecular genetic make-up of male breast cancer. Endocrine-related cancer 2019 Jul . Moelans Cathy B, de Ligt Joep, van der Groep Petra, Prins Pjotr, Besselink Nicolle J M, Hoogstraat Marlous, Ter Hoeve Natalie D, Lacle Miangela M, Kornegoor Robert, van der Pol Carmen C, de Leng Wendy W J, Barbé Ellis, van der Vegt Bert, Martens John, Bult Peter, Smit Vincent T H B M, Koudijs Marco J, Nijman Isaac J, Voest Emile E, Selenica Pier, Weigelt Britta, Reis-Filho Jorge S, van der Wall Elsken, Cuppen Edwin, van Diest Paul |
Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences. The American journal of surgical pathology 2020 4 44 (5): 649-656. Leskela Susanna, Romero Ignacio, Cristobal Eva, Pérez-Mies Belén, Rosa-Rosa Juan M, Gutierrez-Pecharroman Ana, Caniego-Casas Tamara, Santón Almudena, Ojeda Belén, López-Reig Raquel, Palacios-Berraquero María L, García Ángel, Ibarra Javier, Hakim Sofía, Guarch Rosa, López-Guerrero José A, Poveda Andrés, Palacios Jo |
Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort. International journal of cancer 2020 Nov . Aparicio Thomas, Svrcek Magali, Henriques Julie, Afchain Pauline, Lièvre Astrid, Tougeron David, Gagniere Johan, Terrebonne Eric, Piessen Guillaume, Legoux Jean-Louis, Lecaille Cédric, Pocard Marc, Gornet Jean-Marc, Zaanan Aziz, Lavau-Denes Sandrine, Lecomte Thierry, Deutsch David, Vernerey Dewi, Puig Pierre Laure |
Clinical Features and Genomic Characterization of Post-Colonoscopy Colorectal Cancer. Clinical and translational gastroenterology 2020 10 11 (10): e00246. Tanaka Hidenori, Urabe Yuji, Oka Shiro, Shimohara Yasutsugu, Nishimura Tomoyuki, Inagaki Katsuaki, Okamoto Yuki, Matsumoto Kenta, Yamashita Ken, Sumimoto Kyoku, Ninomiya Yuki, Yuge Ryo, Tanaka Shinji, Chayama Kazua |
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants. Orphanet journal of rare diseases 2020 Oct 15 (1): 288. Tian Wen, Huang Yingzhao, Sun Liying, Guo Yang, Zhao Sen, Lin Mao, Dong Xiying, Zhong Wenyao, Yin Yuehan, Chen Zefu, Zhang Nan, Zhang Yuanqiang, Wang Lianlei, Lin Jiachen, Yan Zihui, Yang Xinzhuang, Zhao Junhui, Qiu Guixing, Zhang Jianguo, Wu Zhihong, Wu Nan, |
Phase II Trial of Cabozantinib in Recurrent/Metastatic Endometrial Cancer: A Study of the Princess Margaret, Chicago, and California Consortia (NCI9322/PHL86). Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Jan . Dhani Neesha C, Hirte Hal W, Wang Lisa, Burnier Julia V, Jain Angela, Butler Marcus O, Welch Stephen, Fleming Gini F, Hurteau Jean, Matsuo Koji, Matei Daniela, Jimenez Waldo, Johnston Carolyn, Cristea Mihaela, Tonkin Katia, Ghatage Prafull, Lheureux Stephanie, Mehta Anjali, Quintos Judy, Tan Qian, Kamel-Reid Suzanne, Ludkovski Olga, Tsao Ming-Sound, Wright John J, Oza Amit |
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations. Orphanet journal of rare diseases 2021 6 16 (1): 267. Brouillard Pascal, Schlögel Matthieu J, Homayun Sepehr Nassim, Helaers Raphaël, Queisser Angela, Fastré Elodie, Boutry Simon, Schmitz Sandra, Clapuyt Philippe, Hammer Frank, Dompmartin Anne, Weitz-Tuoretmaa Annamaria, Laranne Jussi, Pasquesoone Louise, Vilain Catheline, Boon Laurence M, Vikkula Miik |
Clinical and genetic analyses of patients with lateralized overgrowth. BMC medical genomics 2022 9 15 (1): 206. Kim Yoon-Myung, Lee Yena, Choi Yunha, Choi In Hee, Heo Sun Hee, Choi Jung Min, Do Hyo-Sang, Jang Ja-Hyun, Yum Mi-Sun, Yoo Han-Wook, Lee Beom H |
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations. Journal of human genetics 2022 9 67 (12): 721-728. Nozawa Akifumi, Fujino Akihiro, Yuzuriha Shunsuke, Suenobu Souichi, Kato Aiko, Shimizu Fumiaki, Aramaki-Hattori Noriko, Kuniyeda Kanako, Sakaguchi Kazuya, Ohnishi Hidenori, Aoki Yoko, Ozeki Mich |
Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants. American journal of human genetics 2022 08 109 (8): 1520-1533. Brewer Takae, Yehia Lamis, Bazeley Peter, Eng Char |
Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature. Frontiers in cardiovascular medicine 2022 9 876294. Bartoli Lorenzo, Angeli Francesco, Stefanizzi Andrea, Fabrizio Michele, Paolisso Pasquale, Bergamaschi Luca, Broccoli Alessandro, Zinzani Pier Luigi, Galiè Nazzareno, Rucci Paola, Foà Alberto, Pizzi Carmi |
BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant. Molecular genetics and genomics : MGG 2022 6 297 (5): 1257-1268. Ouedraogo Serge Yannick, Zoure Abdou Azaque, Zeye Moutanou Modeste Judes, Kiendrebeogo Touwendpoulimdé Isabelle, Zhou Xi, Sawadogo Alexis Yobi, Simpore Jacques, Chen Hanch |
Pancreatoblastoma in Elderly Adults: Report of Two Patients. International journal of surgical pathology 2022 10 10668969221133347. Kulak Ozlem, Osipov Arsen, Hendifar Andrew E, Nissen Nicholas N, Cox Brian K, Hruban Ralph H, Hutchings Danielle |
A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression. International journal of surgical pathology 2022 1 30 (6): 606-615. Anderson William J, Tsai Harrison K, Sholl Lynette M, Hirsch Michelle |
Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors. Orphanet journal of rare diseases 2023 9 18 (1): 270. Yuki Sasaki, Kosuke Ishikawa, Kanako C Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasa |
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Orphanet journal of rare diseases 2023 9 18 (1): 261. Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin |
Pilot study of gene mutations associated with Lynch syndrome in Slovak patients with breast cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 4 36 (2): 130-134. L Krasni?anová, R Saade, P Priš?áková, H Gbelcová, K Ka?avská, M Karaba, J Benca, M Mego, V Repis |
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. American journal of medical genetics. Part A 2023 3 . Yüksel Ülker Aylin, Uluda? Alkaya Dilek, Ça?layan Ahmet Okay, Usluer Esra, Aykut Ayça, Aslanger Ayça, Vural Mehmet, Tüysüz Beyh |
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- Page last updated:Apr 16, 2024
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