Genetic Epidemiology 2: Pathway Analysis, Sequencing, Functional Genetics / Family and Hereditary Studies

• 6272 Enhancing variant interpretation through multi-database and systematic variant classification: Reducing uncertainty in clinical genomics Bharat Sinha Bhosale, Sandhya Iyer, Mina Darooei, Madhura Basavalingegowda, Anay walunjkar, Mohan Uttarwar, Kanchan Hariramani, Aarthi Ramesh, Gowhar Shafi
• 6273 Clinicopathological and genetic features of Algerian patients with suspected Li-Fraumeni Syndrome: Implications in genetic screening and testing Farid Cherbal, Chiraz Mehemmai, Djamel-Eddine Seddik, Mouchira Saidi, Mohammed Oukkal, Fatiha Gachi
• 6275 Multidimensional analyses of pedigree, epidemiologic, and molecular data provide etiologic clues for myalgic encephalomyelitis/chronic fatigue syndrome Roxana Moslehi, Anil Kumar, Amiran Dzutsev
• 6276 Predictors of engagement on a closed social support network for individuals with Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome Patrick Boyd, Yi Xiao, Sandra Davey, Jenna R. Hoopes, Cassiel Suarez, Justin Martinez, Alex Capasso, Kathryn Reyes, Ilana Solomon, Stacy W. Gray
• 6277 · PDF Determinants of Cancer Risk in Hereditary Cancer-Prone Individuals: The eGene Study Zhengwei Zhang, Lou Romanens-Renard, Li Zhang, Pamela N. Munster
• 6278 · PDF Unraveling the missing heritability of unexplained familial cancers with germline genome sequencing Noah Fields, Ryan Collins, Seunghun Seunghun Han, Erin Shannon, Ryan Buehler, Deborah Wood Neklason, Jihye Park, Junne Kamihara, Judy Garber, Riaz Gillani, Saud H. AlDubayan, Eliezer Van Allen
• 6279 · PDF Socioeconomic and geographic disparities in germline genetic testing for Korean male breast cancer Jun-Ha Jang, Eun Gyeoung Lee, Hyun-Jin Kim, Kong Sun-Young
• 6280 Leveraging RNA and long-read DNA to improve genetic etiology identification in individuals with elevated cancer risk: A pilot study in individuals with Li-Fraumeni-like phenotype Yewon Kim, Anvith Kakkera, Asher Bryant, Sharon A. Savage, Michael C. Dean, Payal Khincha, Misha Kolmogorov, Sheila Rajagopal
• 6281 · PDF Germinal pathogenic variants in Chilean early-onset gastric cancer patients Graciela Adriana Molina Fuentes, Enrique Norero Muñoz, Ana Patricia Estrada-Florez, Paul Lott, Guillermo Lay-Son, Paulina González Canales, Carol Parra, Osvaldo Torres, José Miguel Martínez, Cedric Adelsdorfer, Glyn Llewelyn, Alejandro H Corvalán, Luis G. Carvajal-Carmona
• 6282 · PDF Evidence for pathogenicity of inherited biallelic MSH3 variants causing early-onset colorectal cancer Yuki Aisu, Minoru Koi, John M. Carethers
• 6284 Putative pathogenic germline variants associated with hereditary cancer syndromes identified through clinical tumor-only sequencing Sheehyun Kim, Suhyun Hwangbo, Sungyoung Lee, Hongseok Yun
• 6285 · PDF A novel functional cell line model for high throughput assessment of SDHA VUS for pathogenicity Michael C. Heinrich, Christine Robbins, Ajia Town
• 6286 Functional assessment of RECQL4 missense variants identified in RECQL4 genetic disorder-associated osteosarcomas Brian Rodemoyer, Samuel Brito, Thales C. Nepomuceno, Alvaro N. Monteiro
• 6287 · PDF Ancestry-enriched ACKR1 germline variant and its functional impact on normal and breast cancer biology Stephanie Adama, Adedeji Adebayo, Sedat Kacar, Poornima Bhat-Nakshatri, Jiang Guanglong, Cihat Erdogan, Bryan P. Schneider, Kathy D. Miller, Harikrishna Nakshatri
• 6288 Rational pairing of tumors with off-patent targeted therapies (TT): Next 3 generation sequencing with global applications for the unprivileged patients! Farah Mazahreh, Liyan Mazahreh, Ahmad Mazin Safar
• 6289 Targeted sequencing of common cancer susceptibility genes reveals germline variants in African prostate cancer patients Abimbola F. Onyia, Freeman Okwuchi, Opeyemi C. De Campos, Sylvester Divine, Olutola Olasehinde, Ayinde Yahaya, Ayo Salako, Aminu Zakari, Iya Bassey, Nicholas Titiloye, Bernard Petershie, Isidore GANDAHO, Luc Brun, Tore Sanni, Safiatou Coulibaly, Noel Coulibaly, Michael Fakayode, Coulibaly Issoufou, Valérie Gbonon, Kouame Benjamin, Yao Evrard, Peter Coleman, Ayun Cassell, Victor Ajumbo, Lilac Wattanga, Benson Ochieng Nyambega, Folakemi T. Odedina, Solomon Rotimi
• 6290 · PDF Next-generation sequencing utilization among U.S. Veterans with metastatic cancer in the VA Healthcare System John R. Bihn, Aditi Hazra, Kaelyn Nannini, Cassidy Kenny, Rachel E. Ward, Jennifer La, Nathanael R. Fillmore, Gieira S. Jones, J. M. Gaziano
• 6291 · PDF Clonal hematopoiesis and incident hematologic and myeloid malignancy in ARIC Elizabeth A. Platz, Hidetaka Uryu, Vernon A. Burk, Meng Ru, Sergiu Pasca, Lukasz P. Gondek, Katherine Y. King, Anna E. Prizment, Corinne E. Joshu, Pradeep Natarajan, Margaret A. Goodell, Christie M. Ballantyne, Koichi Takahashi
• 6292 Comprehensive whole-Genome profiling reveals Cooperative PI3K-TP53-RB1-ATRX pathway alterations and immune-modulatory drivers in myxoid liposarcoma Jonathan Gonzalez, Hayde Caro-Sánchez, Dorian Y. García-Ortega, Andrea Ramírez, Rodrigo Cruz-Nieto, Claudia García-Cuellar, Diddier Prada
• 6293 Distinguishing radiation-induced from sporadic thyroid cancers after the Chornobyl nuclear power plant accident Danielle M. Karyadi, Tetiana I. Bogdanova, Stephen W. Hartley, Vladimir Drozdovitch, Sergii Masiuk, Belynda Hicks, Kristine Jones, Amy Hutchinson, Petra Lenz, Maria Brown, Aaron M. Rozeboom, Elizabeth K. Cahoon, Mykola Chepurny, Liudmyla Yu Zurnadzhy, Vibha Vij, Cari M. Kitahara, Michael Dean, Gayle E. Woloschak, Dale A. Ramsden, Mykola D. Tronko, Stephen J. Chanock, Lindsay M. Morton
• 6294 · PDF Rare germline variants in key pathways contribute to hepatocellular carcinoma risk in Hispanics Xiangnan Li, Spiridon Tsavachidis, Priya B. Shetty, Yanhong Liu, Aaron P. Thrift
• 6295 · PDF Mutational processes in esophageal and gastroesophageal junction adenocarcinomas across geographical regions Laura Torrens, Sarah Moody, Jiali Pang, Behnoush Abedi-Ardekani, Ayesha Noorani, Haoran Zhang, Pilar Gallego-Garcia, Valerie Gaborieau, Thomas Cattiaux, Priscilia Chopard, Stephen Fitzgerald, Calli Latimer, Christine Carreira, Marcos Diaz-Gay, Laura Humphreys, Ludmil B. Alexandrov, Michael R. Stratton, Sandra Perdomo, Paul Brennan, on behalf of the MUTOGRAPHS project
• 6296 · PDF Deciphering the promotional determinants of esophageal cancer in countries with varying incidence Laura Torrens, Raquel Blanco, Joanna C. Fowler, Ana Carolina de Carvalho, Behnoush Abedi-Ardekani, Valérie Gaborieau, Priscilia Chopard, Christine Carreira, Abel Gonzalez, Jeffrey Reina, Anna Martinez-Casals, Augusta Jensen, Rui Manuel Reis M. Reis, Abdolreza Fazel, M. Iqbal Parker, David Zaridze, Patricia Ashton-Prolla, Maria P. Curado, Mats Nilsson, Emma Lundberg, Philip H. Jones, Nuria Lopez-Bigas, Paul Brennan, on behalf of the PROMINENT project

在完整检索应用中浏览本分会场 →