Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 644 Records) |
| Query Trace: Neoplasms and MLH1[original query] |
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| Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report. Frontiers in oncology 2023 9 13 1195814. Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb, Sameh Achoura, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Ridha Chkili, Nada Mansouri, Neila Belguith, Ridha Mr |
| 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 |
| Synchronous And Metachronous Primary Colorectal Cancers With Concordant And Discordant Mismatch Repair Status. Human pathology 2023 9 . Luca Carlin, Michele Paudice, Marta Ingaliso, Simona Pigozzi, Lucia Trevisan, Stefania Sciallero, Alessandro Pastorino, Nataniele Piol, Federica Grillo, Luca Mastrac |
| 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 |
| MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand. Asian Pacific journal of cancer prevention : APJCP 2023 8 24 (8): 2911-2916. Malinee Pongsavee, Kamol Wisuwan, Kritpipat Pongsav |
| Identification and genetic counseling for a novel variant of MLH1 associated with lynch syndrome in colorectal cancer: a case report. Gastroenterology report 2023 8 11 goad049. Xiaohuan Lu, Hongyan Zhang, Luming Xu, Yang Cao, Yuan Li, Wei Li, Gang Li, Feng Xue, Zheng Wa |
| The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic. Current issues in molecular biology 2023 8 45 (8): 6383-6394. Airat Bilyalov, Sergey Nikolaev, Anastasiia Danishevich, Igor Khatkov, Komron Makhmudov, Zhainagul Isakova, Nurbek Bakirov, Ernis Omurbaev, Alena Osipova, Ramaldan Ramaldanov, Elena Shagimardanova, Andrey Kiyasov, Oleg Gusev, Natalia Boduno |
| 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 |
| Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. Hereditary cancer in clinical practice 2023 7 21 (1): 13. Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolo |
| 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 |
| Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing. Cureus 2023 6 15 (6): e39818. Mohiuddin M Taher, Najwa A Bantan, Mustafa H Alwalily, Muhammad Saeed, Nuha M Taher, Meriem Bouzidi, Raid A Jastania, Kamal B Balkhoyo |
| Polyps and colorectal cancer in serrated polyposis syndrome: contribution of the classical adenoma-carcinoma and serrated neoplasia pathways. Clinical and translational gastroenterology 2023 6 . David E F W M van Toledo, Joep E G IJspeert, Hannah Boersma, Alex R Musler, Arne G C Bleijenberg, Evelien Dekker, Carel J M van Noes |
| 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 |
| Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer. The Kaohsiung journal of medical sciences 2023 6 . Nayeralsadat Fatemi, Siang-Jyun Tu, Chin-Chun Chung, Pardis Ketabi Moghadam, Ehsan Nazemalhosseini Mojarad, Amir Sadeghi, Mehdi Totonchi, Hamid Asadzadeh Aghdaei, Jan-Gowth Cha |
| 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 |
| Association of MLH1-93G>A polymorphisms toward lung cancer susceptibility and its association with clinical outcome in North Indian patients treated with platinum-based chemotherapy. Journal of cancer research and therapeutics 2023 5 19 (Supplement): S0. Sidhartha Singh, Navneet Singh, Manoj Baranwal, Siddharth Shar |
| Analysis of Plasma Circulating Tumor DNA in Borderline Resectable Pancreatic Cancer Treated with Neoadjuvant Modified FOLFIRINOX: Clinical Relevance of DNA Damage Repair Gene Alteration Detection. Cancer research and treatment 2023 5 . Dong-Hoon Lim, Hyunseok Yoon, Kyu-Pyo Kim, Baek-Yeol Ryoo, Sang Soo Lee, Do Hyun Park, Tae Jun Song, Dae Wook Hwang, Jae Hoon Lee, Ki Byung Song, Song Cheol Kim, Seung-Mo Hong, Jaewon Hyung, Changhoon Y |
| 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 |
| Clinical Implication of DNA Damage Response Genes in Advanced Gastric Cancer Stage IV and Recurrent Gastric Cancer Patients After Gastrectomy Treated Palliative Chemotherapy. Journal of Cancer 2023 5 14 (7): 1216-1222. Jeong Eun Kim, Song Ee Park, Hee Jun Kim, In Gyu Hwa |
| 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 |
| Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy. Human genomics 2023 5 17 (1): 43. Nermine H Zakaria, Doaa Hashad, Marwa H Saied, Neamat Hegazy, Alyaa Elkayal, Eman Tay |
| 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 |
| 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 |
| MLH1 Loss in Primary Prostate Cancer. JCO precision oncology 2023 5 7 e2200611. Sanaz Nourmohammadi Abadchi, Laura A Sena, Emmanuel S Antonarakis, Colin C Pritchard, James R Eshleman, Eric Q Konnick, Stephen J Salipante, Eugene Shenderov, Tamara L Lot |
| 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 |
| BRAF V600E/RAS Mutations and Lynch Syndrome in Patients With MSI-H/dMMR Metastatic Colorectal Cancer Treated With Immune Checkpoint Inhibitors. The oncologist 2023 4 . Colle Raphael, Lonardi Sara, Cachanado Marine, Overman Michael J, Elez Elena, Fakih Marwan, Corti Francesca, Jayachandran Priya, Svrcek Magali, Dardenne Antoine, Cervantes Baptiste, Duval Alex, Cohen Romain, Pietrantonio Filippo, André Thier |
| A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. Journal of translational medicine 2023 4 21 (1): 282. Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T Harris, Alex Henderson, Megan Higgins, John L Hopper, Ryan A Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O'Connell, Nicholas Pachter, Bernard J Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K Win, Michael D Walsh, Finlay A Macrae, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Daniel D Buchanan, |
| Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. The New England journal of medicine 2023 3 388 (13): 1181-1190. Usui Yoshiaki, Taniyama Yukari, Endo Mikiko, Koyanagi Yuriko N, Kasugai Yumiko, Oze Isao, Ito Hidemi, Imoto Issei, Tanaka Tsutomu, Tajika Masahiro, Niwa Yasumasa, Iwasaki Yusuke, Aoi Tomomi, Hakozaki Nozomi, Takata Sadaaki, Suzuki Kunihiko, Terao Chikashi, Hatakeyama Masanori, Hirata Makoto, Sugano Kokichi, Yoshida Teruhiko, Kamatani Yoichiro, Nakagawa Hidewaki, Matsuda Koichi, Murakami Yoshinori, Spurdle Amanda B, Matsuo Keitaro, Momozawa Yukihi |
| Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion. International journal of molecular sciences 2023 3 24 (6): . Nolano Antonio, Rossi Giovanni Battista, D'Angelo Valentina, Liccardo Raffaella, Rosa Marina De, Izzo Paola, Duraturo Frances |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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