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| A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies. Environmental and molecular mutagenesis 2022 Jul 63 (6): 308-316. Shao Changxia, Wan Jun, Lam Fred C, Tang Huilin, Marley Andrew R, Song Yiqing, Miller Chelsey, Brown Madeline, Han Jiali, Adeboyeje Gboye |
| Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China. JAMA network open 2022 02 5 (2): e2148721. Yin Lingdi, Wei Jishu, Lu Zipeng, Huang Shimeng, Gao Hao, Chen Jianmin, Guo Feng, Tu Min, Xiao Bin, Xi Chunhua, Zhang Kai, Li Qiang, Wu Junli, Gao Wentao, Jiang Kuirong, Yu Jun, Miao |
| Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clinical and translational gastroenterology 2021 Oct 12 (10): e00414. Uson Pedro L S, Samadder N Jewel, Riegert-Johnson Douglas, Boardman Lisa, Borad Mitesh J, Ahn Daniel, Sonbol Mohamad B, Faigel Douglas O, Fukami Norio, Pannala Rahul, Kunze Katie, Golafshar Michael, Klint Margaret, Esplin Edward D, Nussbaum Robert L, Stewart A Keith, Bekaii-Saab Tani |
| Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Dec . Goldstein Jennifer B, Zhao Li, Wang Xuemei, Ghelman Yael, Overman Michael J, Javle Milind, Shroff Rachna T, Varadhachary Gauri R, Wolf Robert A, McAllister Florencia, Futreal P Andrew, Fogelman David |
| Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Mar JCO1801512. Abe Toshiya, Blackford Amanda L, Tamura Koji, Ford Madeline, McCormick Patrick, Chuidian Miguel, Almario Jose Alejandro, Borges Michael, Lennon Anne Marie, Shin Eun Ji, Klein Alison P, Hruban Ralph H, Canto Marcia I, Goggins Micha |
| Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer. Oncotarget 2018 Apr 9 (28): 19817-19825. Kondo Tomohiro, Kanai Masashi, Kou Tadayuki, Sakuma Tomohiro, Mochizuki Hiroaki, Kamada Mayumi, Nakatsui Masahiko, Uza Norimitsu, Kodama Yuzo, Masui Toshihiko, Takaori Kyoichi, Matsumoto Shigemi, Miyake Hidehiko, Okuno Yasushi, Muto Mana |
| Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. Journal of the National Cancer Institute 2018 Feb . Lowery Maeve A, Wong Winston, Jordan Emmet J, Lee Jonathan W, Kemel Yelena, Vijai Joseph, Mandelker Diana, Zehir Ahmet, Capanu Marinela, Salo-Mullen Erin, Arnold Angela G, Yu Kenneth H, Varghese Anna M, Kelsen David P, Brenner Robin, Kaufmann Erica, Ravichandran Vignesh, Mukherjee Semanti, Berger Michael F, Hyman David M, Klimstra David S, Abou-Alfa Ghassan K, Tjan Catherine, Covington Christina, Maynard Hannah, Allen Peter J, Askan Gokce, Leach Steven D, Iacobuzio-Donahue Christine A, Robson Mark E, Offit Kenneth, Stadler Zsofia K, O'Reilly Eileen |
| 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 |
| 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 |
| Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 May . Childs Erica J, Chaffee Kari G, Gallinger Steven, Syngal Sapna, Schwartz Ann G, Cote Michele L, Bondy Melissa L, Hruban Ralph H, Chanock Stephen J, Hoover Robert N, Fuchs Charles S, Rider David N, Amundadottir Laufey T, Stolzenberg-Solomon Rachael, Wolpin Brian M, Risch Harvey A, Goggins Michael G, Petersen Gloria M, Klein Alison |
| 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 |
| Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic. Cancer genetics 2016 Apr . Borecka M, Zemankova P, Vocka M, Soucek P, Soukupova J, Kleiblova P, Sevcik J, Kleibl Z, Janatova |
| Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer? International journal of cancer 2016 Mar . Lener Marcin R, Scott Rodney J, Klu?niak Wojciech, Baszuk Piotr, Cybulski Cezary, Wiechowska-Koz?owska Anna, Huzarski Tomasz, Byrski Tomasz, K?adny Józef, Pietrzak Sandra, Soluch Agnieszka, Jakubowska Anna, Lubi?ski J |
| Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer 2015 Dec . Churpek Jane E, Marquez Rafael, Neistadt Barbara, Claussen Kimberly, Lee Ming K, Churpek Matthew M, Huo Dezheng, Weiner Howard, Bannerjee Mekhala, Godley Lucy A, Le Beau Michelle M, Pritchard Colin C, Walsh Tom, King Mary-Claire, Olopade Olufunmilayo I, Larson Richard |
| 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 |
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.
Nature genetics 2015 Aug 47 (8): 911-6. Childs Erica J, Mocci Evelina, Campa Daniele, Bracci Paige M, Gallinger Steven, Goggins Michael, Li Donghui, Neale Rachel E, Olson Sara H, Scelo Ghislaine, Amundadottir Laufey T, Bamlet William R, Bijlsma Maarten F, Blackford Amanda, Borges Michael, Brennan Paul, Brenner Hermann, Bueno-de-Mesquita H Bas, Canzian Federico, Capurso Gabriele, Cavestro Giulia M, Chaffee Kari G, Chanock Stephen J, Cleary Sean P, Cotterchio Michelle, Foretova Lenka, Fuchs Charles, Funel Niccola, Gazouli Maria, Hassan Manal, Herman Joseph M, Holcatova Ivana, Holly Elizabeth A, Hoover Robert N, Hung Rayjean J, Janout Vladimir, Key Timothy J, Kupcinskas Juozas, Kurtz Robert C, Landi Stefano, Lu Lingeng, Malecka-Panas Ewa, Mambrini Andrea, Mohelnikova-Duchonova Beatrice, Neoptolemos John P, Oberg Ann L, Orlow Irene, Pasquali Claudio, Pezzilli Raffaele, Rizzato Cosmeri, Saldia Amethyst, Scarpa Aldo, Stolzenberg-Solomon Rachael Z, Strobel Oliver, Tavano Francesca, Vashist Yogesh K, Vodicka Pavel, Wolpin Brian M, Yu Herbert, Petersen Gloria M, Risch Harvey A, Klein Alison |
| 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 |
| Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterology 2015 Mar 148 (3): 556-64. Grant Robert C, Selander Iris, Connor Ashton A, Selvarajah Shamini, Borgida Ayelet, Briollais Laurent, Petersen Gloria M, Lerner-Ellis Jordan, Holter Spring, Gallinger Stev |
| Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 2015 Feb 518 (7540): 495-501. Waddell Nicola, Pajic Marina, Patch Ann-Marie, Chang David K, Kassahn Karin S, Bailey Peter, Johns Amber L, Miller David, Nones Katia, Quek Kelly, Quinn Michael C J, Robertson Alan J, Fadlullah Muhammad Z H, Bruxner Tim J C, Christ Angelika N, Harliwong Ivon, Idrisoglu Senel, Manning Suzanne, Nourse Craig, Nourbakhsh Ehsan, Wani Shivangi, Wilson Peter J, Markham Emma, Cloonan Nicole, Anderson Matthew J, Fink J Lynn, Holmes Oliver, Kazakoff Stephen H, Leonard Conrad, Newell Felicity, Poudel Barsha, Song Sarah, Taylor Darrin, Waddell Nick, Wood Scott, Xu Qinying, Wu Jianmin, Pinese Mark, Cowley Mark J, Lee Hong C, Jones Marc D, Nagrial Adnan M, Humphris Jeremy, Chantrill Lorraine A, Chin Venessa, Steinmann Angela M, Mawson Amanda, Humphrey Emily S, Colvin Emily K, Chou Angela, Scarlett Christopher J, Pinho Andreia V, Giry-Laterriere Marc, Rooman Ilse, Samra Jaswinder S, Kench James G, Pettitt Jessica A, Merrett Neil D, Toon Christopher, Epari Krishna, Nguyen Nam Q, Barbour Andrew, Zeps Nikolajs, Jamieson Nigel B, Graham Janet S, Niclou Simone P, Bjerkvig Rolf, Grützmann Robert, Aust Daniela, Hruban Ralph H, Maitra Anirban, Iacobuzio-Donahue Christine A, Wolfgang Christopher L, Morgan Richard A, Lawlor Rita T, Corbo Vincenzo, Bassi Claudio, Falconi Massimo, Zamboni Giuseppe, Tortora Giampaolo, Tempero Margaret A, , Gill Anthony J, Eshleman James R, Pilarsky Christian, Scarpa Aldo, Musgrove Elizabeth A, Pearson John V, Biankin Andrew V, Grimmond Sean |
| [PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. Klinicka? onkologie : casopis Ceske? a Slovenske? onkologicke? spolecnosti 2015 29 Suppl 1 31-4. Janatová M, Borecká M, Soukupová J, Kleiblová P, St?íbrná J, Vo?ka M, Zemánková P, Panczak A, Veselá K, Sou?ek P, Foretová L, Kleibl |
| Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PloS one 2013 8 (7): e67538. Blanco Ana, de la Hoya Miguel, Osorio Ana, Diez Orland, Miramar María Dolores, Infante Mar, Martinez-Bouzas Cristina, Torres Asunción, Lasa Adriana, Llort Gemma, Brunet Joan, Graña Begoña, Perez Segura Pedro, Garcia María José, Gutiérrez-Enríquez Sara, Carracedo Ángel, Tejada María-Isabel, Velasco Eladio A, Calvo María-Teresa, Balmaña Judith, Benitez Javier, Caldés Trinidad, Vega A |
| Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. European journal of human genetics : EJHG 2012 May 20 (5): 577-9. Harinck Femme, Kluijt Irma, van Mil Saskia E, Waisfisz Quinten, van Os Theo A M, Aalfs Cora M, Wagner Anja, Olderode-Berends Maran, Sijmons Rolf H, Kuipers Ernst J, Poley Jan-Werner, Fockens Paul, Bruno Marco |
| Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Familial cancer 2012 Mar 11 (1): 41-7. Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G, |
| PALB2 analysis in BRCA2-like families. Breast cancer research and treatment 2011 Jun 127 (2): 357-62. Adank M A, van Mil S E, Gille J J P, Waisfisz Q, Meijers-Heijboer |
| PALB2 mutations in familial breast and pancreatic cancer. Familial cancer 2011 Jun 10 (2): 225-31. Hofstatter Erin W, Domchek Susan M, Miron Alexander, Garber Judy, Wang Molin, Componeschi Kathryn, Boghossian Leigh, Miron Penelope L, Nathanson Katherine L, Tung Nadi |
| Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 Sep 18 (9): 2549-52. McWilliams Robert R, Bamlet William R, de Andrade Mariza, Rider David N, Couch Fergus J, Cunningham Julie M, Matsumoto Martha E, Rabe Kari G, Hammer Traci J, Petersen Gloria |
| Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science (New York, N.Y.) 2009 Apr 324 (5924): 217. Jones Siân, Hruban Ralph H, Kamiyama Mihoko, Borges Michael, Zhang Xiaosong, Parsons D Williams, Lin Jimmy Cheng-Ho, Palmisano Emily, Brune Kieran, Jaffee Elizabeth M, Iacobuzio-Donahue Christine A, Maitra Anirban, Parmigiani Giovanni, Kern Scott E, Velculescu Victor E, Kinzler Kenneth W, Vogelstein Bert, Eshleman James R, Goggins Michael, Klein Alison |
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- Page last updated:Sep 27, 2022
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