Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 53 Records) |
| Query Trace: Familial Pancreatic Cancer[original query] |
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| BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul 17 (7): 569-77. Zhen David B, Rabe Kari G, Gallinger Steven, Syngal Sapna, Schwartz Ann G, Goggins Michael G, Hruban Ralph H, Cote Michele L, McWilliams Robert R, Roberts Nicholas J, Cannon-Albright Lisa A, Li Donghui, Moyes Kelsey, Wenstrup Richard J, Hartman Anne-Renee, Seminara Daniela, Klein Alison P, Petersen Gloria |
| Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation. Familial cancer 2015 Sep 14 (3): 341-8. Vietri Maria Teresa, Caliendo Gemma, Schiano Concetta, Casamassimi Amelia, Molinari Anna Maria, Napoli Claudio, Cioffi Miche |
| The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome. Cancer research and treatment : official journal of Korean Cancer Association 2017 Apr 49 (2): 430-436. Lener Marcin R, Kashyap Aniruddh, Kluzniak Wojciech, Cybulski Cezary, Soluch Agnieszka, Pietrzak Sandra, Huzarski Tomasz, Gronwald Jacek, Lubinski J |
| Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Apr . Vasen Hans, Ibrahim Isaura, Ponce Carmen Guillen, Slater Emily P, Matthäi Elvira, Carrato Alfredo, Earl Julie, Robbers Kristin, van Mil Anneke M, Potjer Thomas, Bonsing Bert A, de Vos Tot Nederveen Cappel Wouter H, Bergman Wilma, Wasser Martin, Morreau Hans, Klöppel Günter, Schicker Christoph, Steinkamp Martin, Figiel Jens, Esposito Irene, Mocci Evelina, Vazquez-Sequeiros Enrique, Sanjuanbenito Alfonso, Muñoz-Beltran Maria, Montans José, Langer Peter, Fendrich Volker, Bartsch Detlef |
| Germline mutations in Japanese familial pancreatic cancer patients. Oncotarget 2016 Oct . Takai Erina, Yachida Shinichi, Shimizu Kyoko, Furuse Junji, Kubo Emi, Ohmoto Akihiro, Suzuki Masami, Hruban Ralph H, Okusaka Takuji, Morizane Chigusa, Furukawa To |
| Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 8 35 (30): 3382-3390. Shindo Koji, Yu Jun, Suenaga Masaya, Fesharakizadeh Shahriar, Cho Christy, Macgregor-Das Anne, Siddiqui Abdulrehman, Witmer P Dane, Tamura Koji, Song Tae Jun, Navarro Almario Jose Alejandro, Brant Aaron, Borges Michael, Ford Madeline, Barkley Thomas, He Jin, Weiss Matthew J, Wolfgang Christopher L, Roberts Nicholas J, Hruban Ralph H, Klein Alison P, Goggins Micha |
| The Combination of MiRNA-196b, LCN2, and TIMP1 is a Potential Set of Circulating Biomarkers for Screening Individuals at Risk for Familial Pancreatic Cancer. Journal of clinical medicine 2018 9 7 (10): . Bartsch Detlef K, Gercke Norman, Strauch Konstantin, Wieboldt Ronja, Matthäi Elvira, Wagner Vinona, Rospleszcz Susanne, Schäfer Agnes, Franke Frederike S, Mintziras Ioannis, Bauer Christian, Grote Tobias, Figiel Jens, Di Fazio Pietro, Burchert Andreas, Reinartz Silke, Pogge von Strandmann Elke, Klöppel Günter, Slater Emily |
| Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer. Proceedings of the National Academy of Sciences of the United States of America 2018 Apr . Tamura Koji, Yu Jun, Hata Tatsuo, Suenaga Masaya, Shindo Koji, Abe Toshiya, MacGregor-Das Anne, Borges Michael, Wolfgang Christopher L, Weiss Matthew J, He Jin, Canto Marcia Irene, Petersen Gloria M, Gallinger Steven, Syngal Sapna, Brand Randall E, Rustgi Anil, Olson Sara H, Stoffel Elena, Cote Michele L, Zogopoulos George, Potash James B, Goes Fernando S, McCombie Richard W, Zandi Peter P, Pirooznia Mehdi, Kramer Melissa, Parla Jennifer, Eshleman James R, Roberts Nicholas J, Hruban Ralph H, Klein Alison Patricia, Goggins Micha |
| A Sub-Type of Familial Pancreatic Cancer: Evidence and Implications of Loss-of-Function Polymorphisms in Indoleamine-2,3-Dioxygenase-2. Journal of the American College of Surgeons 2018 Apr 226 (4): 596-603. Nevler Avinoam, Muller Alexander J, Cozzitorto Joseph A, Goetz Austin, Winter Jordan M, Yeo Theresa P, Lavu Harish, Yeo Charles J, Prendergast George C, Brody Jonathan |
| Identification of Cystic Lesions by Secondary Screening of Familial Pancreatic Cancer (FPC) Kindreds Is Not Associated with the Stratified Risk of Cancer. The American journal of gastroenterology 2018 10 114 (1): 155-164. Sheel A R G, Harrison S, Sarantitis I, Nicholson J A, Hanna T, Grocock C, Raraty M, Ramesh J, Farooq A, Costello E, Jackson R, Chapman M, Smith A, Carter R, Mckay C, Hamady Z, Aithal G P, Mountford R, Ghaneh P, Hammel P, Lerch M M, Halloran C, Pereira S P, Greenhalf |
| Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer. Annals of surgery 2020 Aug . Takai Erina, Nakamura Hiromi, Chiku Suenori, Kubo Emi, Ohmoto Akihiro, Totoki Yasushi, Shibata Tatsuhiro, Higuchi Ryota, Yamamoto Masakazu, Furuse Junji, Shimizu Kyoko, Takahashi Hideaki, Morizane Chigusa, Furukawa Toru, Yachida Shinic |
| A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. EBioMedicine 2020 3 53 102675. Earl Julie, Galindo-Pumariño Cristina, Encinas Jessica, Barreto Emma, Castillo Maria E, Pachón Vanessa, Ferreiro Reyes, Rodríguez-Garrote Mercedes, González-Martínez Silvia, Ramon Y Cajal Teresa, Diaz Luis Robles, Chirivella-Gonzalez Isabel, Rodriguez Montse, de Castro Eva Martínez, García-Seisdedos David, Muñoz Gloria, Rosa Juan Manuel Rosa, Marquez Mirari, Malats Nuría, Carrato Alfre |
| The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response. Human mutation 2020 11 42 (2): 150-163. Zhang Yue, Park Jung-Young, Zhang Fan, Olson Sara H, Orlow Irene, Li Yirong, Kurtz Robert C, Ladanyi Marc, Chen Jie, Toland Amanda E, Zhang Liying, Andreassen Paul |
| Correction: Earl et al. Somatic Mutation Profiling in the Liquid Biopsy and Clinical Analysis of Hereditary and Familial Pancreatic Cancer Cases Reveals KRAS Negativity and a Longer Overall Survival. Cancers 2021, 13, 1612. Cancers 2021 8 13 (15): . Earl Julie, Barreto Emma, Castillo María E, Fuentes Raquel, Rodríguez-Garrote Mercedes, Ferreiro Reyes, Reguera Pablo, Muñoz Gloria, Garcia-Seisdedos David, López Jorge Villalón, Sainz Bruno, Malats Nuria, Carrato Alfre |
| Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of personalized medicine 2021 8 11 (7): . Slater Emily P, Wilke Lisa M, Böhm Lutz Benedikt, Strauch Konstantin, Lutz Manuel, Gercke Norman, Matthäi Elvira, Hemminki Kari, Försti Asta, Schlesner Matthias, Paramasivam Nagarajan, Bartsch Detlef |
| Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients. Clinical genetics 2021 7 100 (5): 551-562. Tan Ming, Brusgaard Klaus, Gerdes Anne-Marie, Mortensen Michael Bau, Detlefsen Sönke, Schaffalitzky de Muckadell Ove B, Joergensen Maiken Thyreg |
| Long-term yield of pancreatic cancer surveillance in high-risk individuals. Gut 2021 4 71 (6): 1152-1160. Overbeek Kasper A, Levink Iris J M, Koopmann Brechtje D M, Harinck Femme, Konings Ingrid C A W, Ausems Margreet G E M, Wagner Anja, Fockens Paul, van Eijck Casper H, Groot Koerkamp Bas, Busch Olivier R C, Besselink Marc G, Bastiaansen Barbara A J, van Driel Lydi M J W, Erler Nicole S, Vleggaar Frank P, Poley Jan-Werner, Cahen Djuna L, van Hooft Jeanin E, Bruno Marco J, |
| Susceptibility loci for pancreatic cancer in the Brazilian population. BMC medical genomics 2021 4 14 (1): 111. Aoki Mateus Nóbrega, Stein Angelika, de Oliveira Jaqueline Carvalho, Chammas Roger, Uno Miyuki, Munhoz Francielle Boçon de Araújo, Marin Anelis Maria, Canzian Federi |
| Familial Pancreatic Cancer. Gastroenterology clinics of North America 2022 9 51 (3): 561-575. Saba Helena, Goggins Micha |
| Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer? Journal of the National Comprehensive Cancer Network : JNCCN 2022 6 20 (6): 663-673.e12. Wang Yifan, Cuggia Adeline, Chen Yen-I, Parent Josée, Stanek Agatha, Denroche Robert E, Zhang Amy, Grant Robert C, Domecq Céline, Golesworthy Bryn, Shwaartz Chaya, Borgida Ayelet, Holter Spring, Wilson Julie M, Chong George, O'Kane Grainne M, Knox Jennifer J, Fischer Sandra E, Gallinger Steven, Gao Zu-Hua, Foulkes William D, Waschke Kevin A, Zogopoulos Geor |
| Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study. Cancer science 2022 3 113 (5): 1821-1829. Abe Kodai, Kitago Minoru, Kosaki Kenjiro, Yamada Mamiko, Iwasaki Eisuke, Kawasaki Shintaro, Mizukami Keijiro, Momozawa Yukihide, Terao Chikashi, Yagi Hiroshi, Abe Yuta, Hasegawa Yasushi, Hori Shutaro, Tanaka Masayuki, Nakano Yutaka, Kitagawa Yu |
| Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients. Annals of human genetics 2022 3 86 (4): 195-206. Tan Ming, Brusgaard Klaus, Gerdes Anne-Marie, Larsen Martin Jakob, Mortensen Michael Bau, Detlefsen Sönke, de Muckadell Ove B Schaffalitzky, Joergensen Maiken Thyreg |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| Genetic counselling referral practices for patients with pancreatic adenocarcinoma: A French retrospective multicentre observational cohort study (CAPANCOGEN). Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2023 7 . Mathias Brugel, Thibault Marulier, Camille Evrard, Claire Carlier, David Tougeron, Guillaume Piessen, Stéphanie Truant, Anthony Turpin, Nicolas Williet, Damien Botsen, Mathilde Brasseur, Marine Perrier, Olivier Bouc |
| 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 |
| [Familial pancreatic cancer syndrome]. Chirurgie (Heidelberg, Germany) 2023 2 . Seifert Lena, Weitz Jürg |
| Association of glycated hemoglobin with risk of pancreatic cancer in high-risk individuals based on genetic and family history. Clinical and translational gastroenterology 2023 10 . Bechien U Wu, Qiaoling Chen, Becky H Moon, Eva Lustigova, Erin G Nielsen, Monica Alvarado, Syed A Ahm |
| Association between BRCA Gene Variants and the Response to Modified FOLFIRINOX in Patients with Unresectable Pancreatic Cancer. Acta medica Okayama 2023 10 77 (5): 517-525. Shigeru Horiguchi, Kazuyuki Matsumoto, Kosaku Morimoto, Akihiro Matsumi, Hiroyuki Terasawa, Yuki Fujii, Tatsuhiro Yamazaki, Koichiro Tsutsumi, Hironari Ka |
| Characteristics of familial pancreatic cancer families with additional colorectal carcinoma. Familial cancer 2023 1 . Lehman Bettina, Matthäi Elvira, Gercke Norman, Denzer Ulrike W, Figiel Jens, Hess Timo, Slater Emily P, Bartsch Detlef |
| The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants. Familial cancer 2024 5 . Cristina-Marianini-Rios, María E Castillo Sanchez, Ana García García de Paredes, Mercedes Rodríguez, Emma Barreto, Jorge Villalón López, Raquel Fuentes, María Muñoz Beltrán, Alfonso Sanjuanbenito, Eduardo Lobo, Alejandra Caminoa, Ignacio Ruz-Caracuel, Sergio López Durán, José Ramón Foruny Olcina, Javier Blázquez, Enrique Vázquez Sequeros, Alfredo Carrato, Jose Carlos Martínez Ávila, Julie Ea |
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