Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 325 Records) |
Query Trace: Neoplasms and PMS2[original query] |
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The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel. Diagnostics (Basel, Switzerland) 2023 9 13 (18): . Ebtehal Alsolme, Saleh Alqahtani, Musa Fageeh, Duna Barakeh, Nitesh K Sharma, Serghei Mangul, Heather A Robinson, Amany Fathaddin, Charlotte A E Hauser, Malak Abedalthaga |
Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study. Medicine 2023 9 102 (38): e35022. Masanao Kaneko, Mitsuko Nakashima, Kiichi Sugiura, Natsuki Ishida, Satoshi Tamura, Shinya Tani, Mihoko Yamade, Yasushi Hamaya, Satoshi Osawa, Kyota Tatsuta, Kiyotaka Kurachi, Satoshi Baba, Yuji Iwashita, Tomio Arai, Haruhiko Sugimura, Masato Maekawa, Ken Sugimoto, Moriya Iwaizu |
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer. JCO precision oncology 2023 8 7 e2200695. Neelam V Desai, Elizabeth D Barrows, Sarah M Nielsen, Kathryn E Hatchell, Michael J Anderson, Eden V Haverfield, Blanca Herrera, Edward D Esplin, Anneke Lucassen, Nadine M Tung, Claudine Isaa |
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. Genes 2023 8 14 (8): . Luiza Côrtes, Tatiane Ramos Basso, Rolando André Rios Villacis, Jeferson Dos Santos Souza, Mads Malik Aagaard Jørgensen, Maria Isabel Achatz, Silvia Regina Rogat |
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam. Familial cancer 2023 7 . Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Ta |
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling. Mutation research 2023 7 827 111831. Zeynep Özdemir, Ezgi Çevik, Ömür Berna Çakmak Öksüzo?lu, Mutlu Do?an, Öztürk Ate?, Ece Esin, ?rem Bilgetekin, Umut Demirci, Ça?lar Köseo?lu, Alper Topal, Nuri Karadurmu?, Haktan Ba??? Erdem, Taha Bah |
The Impact of Germline Alterations in Appendiceal Adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 6 OF1-OF7. Michael B Foote, Henry Walch, Yelena Kemel, Efsevia Vakiani, Paul Johannet, Margaret Sheehan, Walid Chatila, Sebastian Chung, Garrett M Nash, Anna Maio, Jinru Shia, Diana Mandelker, Michael Berger, Nikolaus Schultz, Luis A Diaz, Andrea Cercek, Zsofia K Stadl |
Mismatch repair gene germline mutations in patients with prostate cancer. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 6 52 (2): 133-138. Bangwei Fang, Yu Wei, Jian Pan, Tingwei Zhang, Dingwei Ye, Yao Z |
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome. Journal of medical genetics 2023 6 . Nuria Dueñas, Hannah Klinkhammer, Nuria Bonifaci, Isabel Spier, Andreas Mayr, Emadeldin Hassanin, Anna Diez-Villanueva, Victor Moreno, Marta Pineda, Carlo Maj, Gabriel Capellà, Stefan Aretz, Joan Brun |
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 |
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development. The American journal of surgical pathology 2023 5 . Shaymaa Hegazy, Randall E Brand, Beth Dudley, Eve Karloski, Jamie L Lesnock, Esther Elishaev, Reetesh K P |
Comparison of gene mutation profile in different lung adenocarcinoma subtypes by targeted next-generation sequencing. Medical oncology (Northwood, London, England) 2023 11 40 (12): 349. Shaowen Zhang, Ping Dong, Zongwei Pan, Qian Chen, Junqi Zhu, Zhangfan M |
[The structure of pathogenic germline variants in colorectal cancer in Moscow patients]. Arkhiv patologii 2023 11 85 (6): 16-25. A B Semenova, M M Byakhova, M V Makarova, V N Galkin, M V Nemtsova, D K Chernevskiy, A M Danishevich, V G Shatalov, A V Babkina, N G Popova, S M Gadzhie |
Comparative Analysis of Mutational Patterns in Triple Negative Breast Cancer Before and after Neoadjuvant Chemotherapy in Patients with Residual Disease. Gene 2023 11 147980. Ashish Singh, Josh Thomas Georgy, Sakthi Dhananjayan, Elanthenral Sigamani, Ajoy Oommen John, Anjana Joel, Jagan Chandramohan, Rajadurai Abarna, Grace Rebekah, Selvamani Backianathan, Deepak Thomas Abraham, Mazhuvanchary Jacob Paul, Raju Titus Chacko, Marie Therese Manipadam, Rekha P |
Validation of Modaplex POLE mutation assay in endometrial carcinoma. Virchows Archiv : an international journal of pathology 2023 10 . Eduard Dorca, Ana Velasco, Mar Varela, Sonia Gatius, Sergio Villatoro, Neus Fullana, Dolors Cuevas, Marta Vaquero, Astrid Birnbaum, Karsten Neumann, Xavier Matias-Gu |
Hereditary cancer testing in a diverse sample across three breast imaging centers. Breast cancer research and treatment 2023 10 . Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K Maisenbacher, Katherine L Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N Weitz |
Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? Frontiers in oncology 2024 7 14 1390221. Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Barate |
[Clinicopathological features and prognosis of sporadic mismatch repair deficient colorectal cancer]. Zhonghua bing li xue za zhi = Chinese journal of pathology 2024 7 53 (7): 702-708. H Wang, R P Hong, J C Chen, J Wang, Z J Zhang, X Y Ren, H W Wu, Z Y Lia |
Molecular classification improves preoperative risk assessment of endometrial cancer. Gynecologic oncology 2024 7 189 56-63. Silvia Cabrera, Vicente Bebia, Carlos López-Gil, Ana Luzarraga-Aznar, Melek Denizli, Lourdes Salazar-Huayna, Nihed Abdessayed, Josep Castellví, Eva Colas, Antonio Gil-More |
Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk. Heliyon 2024 7 10 (11): e31855. Pamela Rivero-García, Yanin Chavarri-Guerra, José Luis Rodríguez Olivares, Jeffrey N Weitzel, Josef Herzog, Fernando Candanedo-González, Javier Ríos-Valencia, Osvaldo M Mutchinick, Jazmín Arteaga-Vázqu |
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data. The Journal of molecular diagnostics : JMD 2024 6 . Elisabet Munté, Lídia Feliubadaló, Jesús Del Valle, Sara González, Mireia Ramos-Muntada, Judith Balmaña, Teresa Ramon Y Cajal, Noemí Tuset, Gemma Llort, Juan Cadiñanos, Joan Brunet, Gabriel Capellá, Conxi Lázaro, Marta Pine |
Predictors for dMMR colorectal cancer in patients with serrated lesions and polyps - A register-based cohort study. Cancer epidemiology 2024 6 91 102601. Mille Kyhn Andrea, Rikke Karlin Jepsen, Mads Falk Klein, Ismail Gögenur, Tine Plato Kuhlma |
Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors. Cancer medicine 2024 6 13 (12): e7340. Rebekah M Summey, Erica Gornstein, Brennan Decker, Kali C Dougherty, Janet S Rader, Elizabeth Ho |
Molecular classification of metastatic and recurrent endometrial endometrioid carcinoma: prognostic relevance among low- and high-stage tumours. Histopathology 2024 6 . Austin McHenry, Kelly Devereaux, Emily Ryan, Stephanie Chow, Grace Allard, Chandler C Ho, Carlos J Suarez, Ann Folkins, Eric Yang, Teri A Longacre, Vivek Charu, Brooke E Howi |
The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration. Cancer 2024 5 . Eve Karloski, Beth Dudley, Brenda Diergaarde, Amie Blanco, Jessica N Everett, Elana Levinson, Tara Rangarajan, Peter P Stanich, Kimberly Childers, Sandra Brown, Christine Drogan, Giulia Martina Cavestro, Kelly Gordon, Aparajita Singh, Diane M Simeone, Hannah Reich, Fay Kastrinos, Dana Zakalik, Heather Hampel, Rachel Pearlman, Ora K Gordon, Sonia S Kupfer, Marta Puzzono, Raffaella Alessia Zuppardo, Randall E Bra |
Different genetic profiles contribute to worse overall survival in patients with leptomeningeal metastases of non-small-cell lung cancer. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2024 5 . Xusheng Tang, Xiaojuan Hu, Lin Yuan, Hainan Yang, Yunfen Luo, Da Liu, Qingjun Hu, Changguo Shan, Tao Lin, Linbo Cai, Zhaoming Zhou, Xin Jin, Ming Lei, Weiping Ho |
The Use of Glucagon-like Peptide-1 Receptor Agonists in Patients with Type 2 Diabetes Mellitus Does Not Increase the Risk of Pancreatic Cancer: A U.S.-Based Cohort Study. Cancers 2024 5 16 (9): . Mark Ayoub, Carol Faris, Tajana Juranovic, Harleen Chela, Ebubekir Daglil |
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 |
Whole-exome sequencing of Nigerian benign prostatic hyperplasia reveals increased alterations in apoptotic pathways. The Prostate 2024 1 . Jason A White, Ernest T Kaninjing, Kayode A Adeniji, Paul Jibrin, John O Obafunwa, Chidiebere N Ogo, Faruk Mohammed, Ademola Popoola, Omolara A Fatiregun, Olabode P Oluwole, Roland J Thorpe, Balasubramanyam Karanam, Isra Elhussin, Stefan Ambs, Wei Tang, Melissa Davis, Paz Polak, Moray J Campbell, Kathryn R Brignole, Solomon O Rotimi, Windy Dean-Colomb, Folake T Odedina, Clayton Yat |
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. Molecular genetics & genomic medicine 2024 1 12 (1): e2360. Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinima |
- Page last reviewed:Feb 1, 2024
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