Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 365 Records) |
Query Trace: PMS2[original query] |
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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. Journal of medical genetics 2023 9 . Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma Zili, Dominique Vidaud, Jacques Gri |
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 |
Mismatch repair protein mutations in isocitrate dehydrogenase (IDH)-mutant astrocytoma and IDH-wild-type glioblastoma. Neuro-oncology advances 2023 8 5 (1): vdad085. Timothy E Richardson, Raquel T Yokoda, Omid Rashidipour, Meenakshi Vij, Matija Snuderl, Steven Brem, Kimmo J Hatanpaa, Samuel K McBrayer, Kalil G Abdullah, Melissa Umphlett, Jamie M Walker, Nadejda M Tsanko |
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 |
Microsatellite Status Detection of Colorectal Cancer: Evaluation of Inconsistency between PCR and IHC. Journal of Cancer 2023 5 14 (7): 1132-1140. Jielin Chen, Qijia Yan, Jingyue Sun, Qingyi Wang, Yongguang Tao, Desheng Xiao, Bin X |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
The impact of germline alterations in appendiceal adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 5 . Michael B Foote, Henry Walch, Yelena Kemel, Efsevia Vakiani, Paul Johannet, Margaret Sheehan, Walid Chatila, Sebastian Chung, Garrett Nash, Anna Maio, Jinru Shia, Diana Mandelker, Michael Berger, Nikolaus Schultz, Luis A Diaz, Andrea Cercek, Zsofia K Stadl |
An Insight into the lynch Syndrome: Retrospective Study of the Pattern of Presentation and Management of Lynch Syndrome in Pakistan. Journal of cancer & allied specialties 2023 5 9 (1): 503. Faraz Faisal Khan, Sarah Khan, Mujeeb Ur Rahman, Maria Qubtia, Amer Rehman Faroo |
Colorectal surveillance outcomes from an institutional longitudinal cohort of lynch syndrome carriers. Frontiers in oncology 2023 5 13 1146825. Gabriel Del Carmen, Laura Reyes-Uribe, Daniel Goyco, Kyera Evans, Charles M Bowen, Jennifer L Kinnison, Valerie O Sepeda, Diane M Weber, Julie Moskowitz, Maureen E Mork, Selvi Thirumurthi, Patrick M Lynch, Miguel A Rodriguez-Bigas, Melissa W Taggart, Y Nancy You, Eduardo Vil |
Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study. Cancer medicine 2023 4 . Casper Reijnen, Stéphanie W Vrede, Astrid Eijkelenboom, Ruud Draak, Sanne Sweegers, Marc P L M Snijders, Puck van Gestel, Johanna M A Pijnenborg, Johan Bulten, Heidi V N Küsters-Vandevel |
Germline genomic findings in children and young adults with melanocytic tumors. Pediatric blood & cancer 2023 4 e30361. Margaret B Nagel, Melissa R Perrino, Regina Nuccio, Alise K Blake, Lynn Harrison, Kim E Nichols, Alberto S Pap |
Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas. The American Journal of dermatopathology 2023 12 . Georgia Karpathiou, Angela Sim, Tiphanie Picot, Khaoula Mekhzoumi, Celine Chauleur, Michel Péoc |
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 |
Clinicopathological and molecular analysis of microsatellite instability in prostate cancer: a multi-institutional study in China. Frontiers in oncology 2023 10 13 1277233. Huizhi Zhang, Xiaoqun Yang, Jialing Xie, Xiao Cheng, Jiayi Chen, Miaomiao Shen, Wenyi Ding, Suying Wang, Zhe Zhang, Chaofu Wang, Ming Zh |
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 |
Mismatch Repair Deficiency Is a Prognostic Factor Predicting Good Survival of Opisthorchis viverrini-Associated Cholangiocarcinoma at Early Cancer Stage. Cancers 2023 10 15 (19): . Natcha Khuntikeo, Sureerat Padthaisong, Watcharin Loilome, Poramate Klanrit, Soontaree Ratchatapusit, Anchalee Techasen, Apiwat Jareanrat, Vasin Thanasukarn, Tharatip Srisuk, Vor Luvira, Jarin Chindaprasirt, Prakasit Sa-Ngiamwibool, Chaiwat Aphivatanasiri, Piyapharom Intarawichian, Supinda Koonmee, Piya Prajumwongs, Attapol Titap |
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
- Page last updated:Mar 25, 2024
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