Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 304 Records) |
| Query Trace: Neoplasms and PMS2[original query] |
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| Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. Journal of medical genetics 2022 11 . Carrasco Estela, López-Fernández Adrià, Codina-Sola Marta, Valenzuela Irene, Cueto-González A M, Villacampa Guillermo, Navarro Victor, Torres-Esquius Sara, Palau Dolors, Cruellas Mara, Torres Maite, Perez-Dueñas Belen, Abulí Anna, Diez Orland, Sábado-Álvarez Constantino, García-Arumí Elena, Tizzano Eduardo F, Moreno Lucas, Balmaña Judi |
| 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 |
| Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma. Cancer research and treatment 2023 4 . Ryu Kum Hei, Park Sunhwa, Chun Jung Won, Cho Eunhae, Choi Jongmun, Lee Dong-Eun, Shim Hyoeun, Kim Yun-Hee, Han Sung-Sik, Park Sang-Jae, Woo Sang Myung, Kong Sun-You |
| 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 |
| Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers. Cancer medicine 2023 4 . Yoshida Masanori, Nakabayashi Kazuhiko, Yang Wentao, Sato-Otsubo Aiko, Tsujimoto Shin-Ichi, Ogata-Kawata Hiroko, Kawai Tomoko, Ishiwata Keisuke, Sakamoto Mika, Okamura Kohji, Yoshida Kaoru, Shirai Ryota, Osumi Tomoo, Kiyotani Chikako, Shioda Yoko, Terashima Keita, Ishimaru Sae, Yuza Yuki, Takagi Masatoshi, Arakawa Yuki, Imamura Toshihiko, Hasegawa Daisuke, Inoue Akiko, Yoshioka Takako, Ito Shuichi, Tomizawa Daisuke, Koh Katsuyoshi, Matsumoto Kimikazu, Kiyokawa Nobutaka, Ogawa Seishi, Manabe Atsushi, Niwa Akira, Hata Kenichiro, Yang Jun J, Kato Motohi |
| Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. Molecular oncology 2023 4 . Sun Zhe, Bai Chujie, Su Miaoyi, Tang Haimeng, Wu Xiaoying, Wang Yue, Bao Hua, Liu Xunbiao, Wu Xue, Shao Yang, Xu B |
| 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 |
| Pilot study of gene mutations associated with Lynch syndrome in Slovak patients with breast cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 4 36 (2): 130-134. L Krasni?anová, R Saade, P Priš?áková, H Gbelcová, K Ka?avská, M Karaba, J Benca, M Mego, V Repis |
| Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC medical genomics 2023 3 16 (1): 42. Hassanin Emadeldin, Spier Isabel, Bobbili Dheeraj R, Aldisi Rana, Klinkhammer Hannah, David Friederike, Dueñas Nuria, Hüneburg Robert, Perne Claudia, Brunet Joan, Capella Gabriel, Nöthen Markus M, Forstner Andreas J, Mayr Andreas, Krawitz Peter, May Patrick, Aretz Stefan, Maj Car |
| Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023 3 . Fujitani Hiroo, Eguchi Hidetaka, Kochi Yuta, Arai Tomio, Muramatsu Masaaki, Okazaki Yasus |
| Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception. Breast cancer research and treatment 2023 3 . Bychkovsky Brittany L, Lo Min-Tzu, Yussuf Amal, Horton Carrie, Hemyari Parichehr, LaDuca Holly, Garber Judy E, Scheib Rochelle, Rana Huma |
| Unique Patterns of Heterogeneous Mismatch Repair Protein Expression in Colorectal Cancer Unveil Different Degrees of Tumor Mutational Burden and Distinct Tumor Microenvironment Features. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 2 36 (2): 100012. Berrino Enrico, Aquilano Maria Costanza, Valtorta Emanuele, Amodio Vito, Germano Giovanni, Gusmini Marco, Gizzi Katiuscia, Fenocchio Elisabetta, Sapino Anna, Marsoni Silvia, Sartore-Bianchi Andrea, Bardelli Alberto, Siena Salvatore, Bonoldi Emanuela, Marchiò Cateri |
| Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma. Cancers 2023 1 15 (1): . Horackova Klara, Frankova Sona, Zemankova Petra, Nehasil Petr, Cerna Marta, Neroldova Magdalena, Otahalova Barbora, Kral Jan, Hovhannisyan Milena, Stranecky Viktor, Zima Tomas, Safarikova Marketa, Kalousova Marta, Consortium Czecanca, Novotny Jan, Sperl Jan, Borecka Marianna, Jelinkova Sandra, Vocka Michal, Janatova Marketa, Kleiblova Petra, Kleibl Zdenek, Jirsa Milan, Soukupova Ja |
| Characterization of a germline variant MSH6 c.4001G >?C in a Lynch syndrome family. Molecular genetics & genomic medicine 2023 1 11 (2): e2104. Yang Ciyu, Misyura Maksym, Kane Sarah, Rai Vikas, Latham Alicia, Zhang Liyi |
| Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome. Frontiers in oncology 2023 1 12 1004469. Li Zhiyu, Cheng Bo, Liu Shan, Ding Shanshan, Liu Jinhong, Quan Lanju, Hao Yanjiao, Xu Lin, Zhao Huan, Guo Jing, Sun Suoz |
| PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps. Global medical genetics 2023 1 10 (1): 1-5. Poaty Henriette, Bouya Lauria Batamba, Lumaka Aimé, Mongo-Onkouo Arnaud, Gassaye De |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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