Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 92 Records) |
Query Trace: Syndrome and PTEN[original query] |
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Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2. Cancers 2020 Aug 12 (9): . Fanale Daniele, Incorvaia Lorena, Filorizzo Clarissa, Bono Marco, Fiorino Alessia, Calò Valentina, Brando Chiara, Corsini Lidia Rita, Barraco Nadia, Badalamenti Giuseppe, Russo Antonio, Bazan Vivia |
Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children? Cells 2020 7 9 (7): . Plamper Michaela, Born Mark, Gohlke Bettina, Schreiner Felix, Schulte Sandra, Splittstößer Vera, Woelfle Joach |
Association of genetic variations in phosphatase and tensin homolog (PTEN) gene with polycystic ovary syndrome in South Indian women: a case control study. Archives of gynecology and obstetrics 2020 6 302 (4): 1033-1040. Siddamalla Swapna, Govatati Suresh, Venu Veena Kunjumol, Erram Nagendram, Deenadayal Mamata, Shivaji Sisinthy, Bhanoori Manju |
WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. The New England journal of medicine 2020 5 382 (22): 2103-2116. Lee Yu-Ru, Yehia Lamis, Kishikawa Takahiro, Ni Ying, Leach Brandie, Zhang Jinfang, Panch Nivedita, Liu Jing, Wei Wenyi, Eng Charis, Pandolfi Pier Pao |
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 |
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients. Annals of human genetics 2020 3 84 (4): 324-330. Isik Esra, Simsir Ozguc Semih, Solmaz Asli Ece, Onay Huseyin, Atik Tahir, Aykut Ayca, Durmaz Asude, Cogulu Ozgur, Ozkinay Fer |
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, |
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. International journal of molecular sciences 2021 Jul 22 (14): . Guglielmi Chiara, Scarpitta Rosa, Gambino Gaetana, Conti Eleonora, Bellè Francesca, Tancredi Mariella, Cervelli Tiziana, Falaschi Elisabetta, Cosini Cinzia, Aretini Paolo, Congregati Caterina, Marino Marco, Patruno Margherita, Pilato Brunella, Spina Francesca, Balestrino Luisa, Tenedini Elena, Carnevali Ileana, Cortesi Laura, Tagliafico Enrico, Tibiletti Maria Grazia, Tommasi Stefania, Ghilli Matteo, Vivanet Caterina, Galli Alvaro, Caligo Maria Adelai |
Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO precision oncology 2021 7 5 . Jia Margaret, Sangwan Naseer, Tzeng Alice, Eng Char |
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India. American journal of medical genetics. Part A 2021 5 185 (8): 2345-2355. Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha |
Lynch Syndrome in Thai Endometrial Cancer Patients. Asian Pacific journal of cancer prevention : APJCP 2021 5 22 (5): 1477-1483. Manchana Tarinee, Ariyasriwatana Chai, Triratanachat Surang, Phowthongkum Pras |
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
Glioma Imaging by O-(2-18F-Fluoroethyl)-L-Tyrosine PET and Diffusion-Weighted MRI and Correlation With Molecular Phenotypes, Validated by PET/MR-Guided Biopsies. Frontiers in oncology 2021 12 11 743655. Cheng Ye, Song Shuangshuang, Wei Yukui, Xu Geng, An Yang, Ma Jie, Yang Hongwei, Qi Zhigang, Xiao Xinru, Bai Jie, Xu Lixin, Hu Zeliang, Sun Tingting, Wang Leiming, Lu Jie, Lin Qingta |
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer. Cancers 2021 10 13 (20): . Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari |
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 |
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 |
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 |
Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors. Genes 2022 4 13 (4): . Disciglio Vittoria, Sanese Paola, Fasano Candida, Lotesoriere Claudio, Valentini Anna Maria, Forte Giovanna, Lepore Signorile Martina, De Marco Katia, Grossi Valentina, Lolli Ivan, Cariola Filomena, Simone Cristia |
Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers. Annals of surgical oncology 2022 2 29 (6): 3578-3590. Huang Chi-Cheng, Tsai Yi-Fang, Liu Chun-Yu, Lien Pei-Ju, Lin Yen-Shu, Chao Ta-Chung, Feng Chin-Jung, Chen Yen-Jen, Lai Jiun-I, Phan Nam Nhut, Hsu Chih-Yi, Chiu Jen-Hwey, Tseng Ling-Mi |
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome. International journal of clinical oncology 2022 2 27 (4): 639-647. Teramae Satoshi, Muguruma Naoki, Okamoto Koichi, Oseto Kumiko, Nishikawa Ryutaro, Tanoue Takayuki, Hirata Keiji, Yanai Shunichi, Matsumoto Takayuki, Shimizu Seiji, Miwa Jun, Sasaki Yu, Yashima Kazuo, Ohnuma Hiroyuki, Sato Yasushi, Kitayama Yoshitaka, Ohda Yoshio, Yamauchi Atsushi, Sanomura Yoji, Tanaka Kumiko, Kubo Yoshiaki, Ishikawa Hideki, Bando Yoshimi, Sonoda Tomoko, Takayama Tetsu |
Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. Journal of the American Academy of Dermatology 2022 2 . Morgan Frederick C, Yehia Lamis, McDonald Christine, Martinez-Agosto Julian A, Hardan Antonio Y, Tamburro Joan, Sahin Mustafa, Bayart Cheryl, Eng Charis, |
Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort. European journal of medical genetics 2022 10 65 (12): 104632. Hendricks Linda A J, Hoogerbrugge Nicoline, Venselaar Hanka, Aretz Stefan, Spier Isabel, Legius Eric, Brems Hilde, de Putter Robin, Claes Kathleen B M, Evans D Gareth, Woodward Emma R, Genuardi Maurizio, Brugnoletti Fulvia, van Ierland Yvette, Dijke Kim, Tham Emma, Tesi Bianca, Schuurs-Hoeijmakers Janneke H M, Branchaud Maud, Salvador Hector, Jahn Arne, Schnaiter Simon, Anastasiadou Violetta Christophidou, Brunet Joan, Oliveira Carla, Roht Laura, Blatnik Ana, Irmejs Arvids, , Mensenkamp Arjen R, Vos Janet |
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome. NPJ genomic medicine 2023 7 8 (1): 14. Takae Brewer, Lamis Yehia, Peter Bazeley, Charis E |
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature. BMC medical genomics 2023 7 16 (1): 166. Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bign |
Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation. Frontiers in endocrinology 2023 6 14 1205785. Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigo |
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel. Oncotarget 2023 6 14 580-594. Musa AlHarbi, Nahla Ali Mobark, Wael Abdel Rahman AlJabarat, Hadeel ElBardis, Ebtehal AlSolme, Abdullah Bany Hamdan, Ali H AlFakeeh, Fatimah AlMushawah, Fawz AlHarthi, Abdullah A AlSharm, Ali Abdullah O Balbaid, Naji AlJohani, Alicia Y Zhou, Heather A Robinson, Saleh A Alqahtani, Malak Abedalthaga |
The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome. HGG advances 2023 5 4 (3): 100199. Ruipeng Wei, Lamis Yehia, Ying Ni, Charis E |
A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations. Annals of dermatology 2023 4 35 (2): 146-150. Lee Jongeun, Shin Dong Min, Oh Se Jin, Park Ji-Hye, Lee Dongyo |
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