Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 412 Records) |
| Query Trace: Breast Neoplasms and CHEK2[original query] |
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| Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer. JAMA network open 2024 9 7 (9): e2431427. Zoulikha Rezoug, Stephanie P Totten, David Szlachtycz, Adrienne Atayan, Kristen Mohler, Sophie Albert, Leila Feng, Brianna Lemieux Anglin, Zhen Shen, Daniel Jimenez, Nancy Hamel, Nicholas Meti, Khashayar Esfahani, Jean-François Boileau, Ipshita Prakash, Mark Basik, Sarkis Meterissian, Francine Tremblay, David Fleiszer, Dawn Anderson, George Chong, Stephanie M Wong, William D Foulk |
| The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer. Annals of surgical oncology 2024 9 . Mahtab Vasigh, Ahmed Mohamed, Lisa Jacobs, Julie Lange, Melissa Camp, Bonnie Sun, Pamela Wright, Maureen O'Donnell, Hanh-Tam Tran, Olutayo Sogunro, Mehran Habibi, Fabian Johnston, David Euh |
| Screening Familial Risk for Hereditary Breast and Ovarian Cancer. JAMA network open 2024 9 7 (9): e2435901. Daniel Kiser, Gai Elhanan, Alexandre Bolze, Iva Neveux, Karen A Schlauch, William J Metcalf, Elizabeth T Cirulli, Catherine McCarthy, Leslie A Greenberg, Savanna Grime, Jamie M Schnell Blitstein, William Plauth, Joseph J Grzyms |
| Development of a breast cancer risk prediction model integrating monogenic, polygenic, and epidemiologic risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2024 9 . Sarah S Kalia, Nicholas J Boddicker, Siddhartha Yadav, Hongyan Huang, Jie Na, Chunling Hu, Christine B Ambrosone, Song Yao, Christopher A Haiman, Fei Chen, Esther M John, Allison W Kurian, Boya Guo, Sara Lindström, Paul Auer, James V Lacey, Susan L Neuhausen, Maria Elena Martinez, Dale P Sandler, Katie M O'Brien, Jack A Taylor, Lauren R Teras, James M Hodge, Adriana Lori, Clara Bodelon, Amy Trentham-Dietz, Elizabeth S Burnside, Celine M Vachon, Stacey J Winham, David E Goldgar, Susan M Domchek, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch, Peter Kra |
| Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data. Journal of medical genetics 2024 8 . Toqir K Mukhtar, Naomi Wilcox, Joe Dennis, Xin Yang, Marc Naven, Nasim Mavaddat, John R B Perry, Eugene Gardner, Douglas F East |
| Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
| Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes. Breast cancer research : BCR 2024 7 26 (1): 118. Arun Kadamkulam Syriac, Nitish Singh Nandu, Allison Clark, Mehrad Tavallai, Dexter X Jin, Ethan Sokol, Kimberly McGregor, Jeffrey S Ross, Natalie Danziger, Jose Pablo Leo |
| A comprehensive analysis of germline predisposition to early-onset ovarian cancer. Scientific reports 2024 7 14 (1): 16183. Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupo |
| Impact of homologous recombination repair/BReast CAncer (BRCA) gene alterations on survival in a real-world setting of metastatic prostate cancer. BJU international 2024 7 . Mike Wenzel, Benedikt Hoeh, Florestan Koll, Clara Humke, Anne Fassl, Henning Reis, Peter Wild, Thomas Steuber, Markus Graefen, Derya Tilki, Miriam Traumann, Severine Banek, Felix K H Chun, Philipp Mand |
| Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Annals of oncology : official journal of the European Society for Medical Oncology 2024 7 . C F Rowlands, S Allen, J Balmaña, S M Domchek, D G Evans, H Hanson, N Hoogerbrugge, P A James, K Nathanson, M Robson, M Tischkowitz, W D Foulkes, C Turnbu |
| Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients. Journal of personalized medicine 2024 6 14 (6): . Maria Valeria Freire, Marie Martin, Karin Segers, Edith Sepulchre, Natacha Leroi, Jérôme Coupier, Hassan Rezaei Kalantari, Pascal Wolter, Joëlle Collignon, Marc Polus, Olivier Plomteux, Claire Josse, Vincent Bou |
| Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients. Human genomics 2024 6 18 (1): 68. Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca-Mendoza, Nora Contreras Bravo, Nicolas Molano-Gonzalez, Mariana Borras, Isabel Munevar, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime González, Gustavo Rojas, Paula Londono-De Los Ríos, Ray Manneh, Rodrigo Cabrera, Wilson Rubiano, Jairo de la Peña, María Catalina Quintero, William Mantilla, Carlos M Restre |
| Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases. Journal of personalized medicine 2024 4 14 (4): . Ibrahim Halil Erdogdu, Seda Orenay-Boyacioglu, Olcay Boyacioglu, Duygu Gurel, Nurten Akdeniz, Ibrahim Meteog |
| Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants. medRxiv : the preprint server for health sciences 2024 4 . Ryan D Chow, Ravi B Parikh, Katherine L Nathans |
| Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ?50 years. Cancer 2024 4 . Rinat Bernstein-Molho, Narmeen Abu Shhada, Yael Laitman, Iris Netzer, Shelley Shoval, Eitan Friedm |
| Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population. Breast cancer research and treatment 2024 12 . Luciana Berlanga, Vanesa Lotersztein, Eliseo I Aranda, Roxana Cerreti |
| Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes. Genetics in medicine open 2024 12 2 101829. Nihat B Agaoglu, Brittany L Bychkovsky, Carolyn Horton, Min-Tzu Lo, Linda Polfus, Cassidy Carraway, Parichehr Hemyari, Colin Young, Marcy E Richardson, Rochelle Scheib, Judy E Garber, Huma Q Ra |
| Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing. Current issues in molecular biology 2024 11 46 (11): 13003-13020. Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D'Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano, Rodolfo Iulia |
| Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. Breast cancer research and treatment 2024 10 . Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak, Ashok K Varma, Nachimuthu Senthil Kum |
| Genomic ascertainment of CHEK2 -related cancer predisposition. medRxiv : the preprint server for health sciences 2024 10 . Sun Young Kim, Jung Kim, Mark Ramos, Jeremy Haley, Diane Smelser, H Shanker Rao, Uyenlinh L Mirshahi, , Barry I Graubard, Hormuzd A Katki, David Carey, Douglas R Stewa |
| Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers. Revista da Associacao Medica Brasileira (1992) 2024 10 70 (10): e20240534. Ferah Kazanci, Zerrin Y?lmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride ?ffet ?ahin, Mehmet Anil On |
| Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity. NPJ precision oncology 2024 10 8 (1): 235. Ryan D Chow, Katherine L Nathanson, Ravi B Pari |
| Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population. medRxiv : the preprint server for health sciences 2024 10 . Mwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav, Chunling Hu, Steven N Hart, Christine Ambrosone, Hoda Anton-Culver, Paul L Auer, Clara Bodelon, Elizabeth S Burnside, Fei Chen, Heather A Eliassen, David E Goldgar, Christopher Haiman, James M Hodge, Hongyan Huang, Esther M John, Rachid Karam, James V Lacey, Sara Lindstroem, Elana Martinez, Jie Na, Susan L Neuhausen, Katie M O'Brien, Janet E Olson, Tuya Pal, Julie R Palmer, Alpa V Patel, Tina Pesaran, Eric C Polley, Marcy E Richardson, Kathryn Ruddy, Dale P Sandler, Lauren R Teras, Amy Trentham-Dietz, Celine M Vachon, Clarice Weinberg, Stacey J Winham, Song Yao, Gary Zirpoli, Peter Kraft, Jeffrey N Weitzel, Susan M Domchek, Fergus J Couch, Katherine L Nathans |
| Genetic contribution of breast cancer genes in women of black African origin. Frontiers in genetics 2024 1 14 1302645. Rokhaya Ndiaye, Jean Pascal Demba Diop, Ahmadou Dem, Alioune Die |
| CHEK2 founder variants and thyroid cancer risk. Thyroid : official journal of the American Thyroid Association 2024 1 . Pamela Brock, Sandya Liyanarachchi, Taina Tuulikki Nieminen, Carlos Chan, Wendy Kohlmann, Leigh Anne Stout, Song Yao, Amanda La Greca, Kirk E Jensen, Jill Kolesar, Bodour Salhia, Pat Gulhati, J Kevin Hicks, Matthew D Ring |
| Upgrade Rates and Breast Cancer Development Among Germline Pathogenic Variant Carriers with High-Risk Breast Lesions. Annals of surgical oncology 2024 1 . Alison Laws, Saskia Leonard, Emma Hershey, Samantha Stokes, Julie Vincuilla, Eshita Sharma, Kara Milliron, Judy E Garber, Sofia D Merajver, Tari A King, Melissa L Pilewsk |
| Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. Pathology, research and practice 2024 1 254 155075. Seref Bugra Tuncer, Betul Celik, Seda Kilic Erciyas, Ozge Sukruoglu Erdogan, Busra Kurt Gültaslar, Demet Akdeniz Odemis, Mukaddes Avsar, Fatma Sen, P?nar Mualla Saip, Hulya Yazi |
| Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer. JAMA network open 2025 1 7 (12): e2452158. Anne S Reiner, Gordon P Watt, Kathleen E Malone, Charles F Lynch, Esther M John, Julia A Knight, Meghan Woods, Xiaolin Liang, Marc Tischkowitz, David V Conti, Mark E Robson, Lene Mellemkjær, Sharon N Teraoka, Patrick Concannon, Jonine L Bernste |
| Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population. JCO global oncology 2025 1 11 e2400065. Dione Aguilar, María L Garza-Rodríguez, Diana C Pérez-Ibave, Carolina E Muñiz-Garza, Victor Treviño, Cynthia M Villarreal-Garza, Oscar Vidal-Gutiérrez, Carlos H Burciaga-Flor |
| Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes. JAMA network open 2025 1 8 (1): e2451361. Brittany L Bychkovsky, Nihat B Agaoglu, Carolyn Horton, Linda Polfus, Marcy E Richardson, Colin Young, Rochelle Scheib, Judy E Garber, Huma Q Ra |
- Page last reviewed:Feb 1, 2024
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