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| Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria. Human mutation 2022 Feb . James Paul A, Fortuno Cristina, Li Na, Lim Belle W X, Campbell Ian G, Spurdle Amanda |
| Risk of Second Primary Thyroid Cancer in Women with Breast Cancer. Cancers 2022 Feb 14 (4): . Cieszy?ska Monika, Klu?niak Wojciech, Woko?orczyk Dominika, Cybulski Cezary, Huzarski Tomasz, Gronwald Jacek, Falco Micha?, D?bniak Tadeusz, Jakubowska Anna, Derkacz Ró?a, Marciniak Wojciech, Lener Marcin, Woronko Karolina, Mocarz Dominika, Baszuk Piotr, Bry?kiewicz Marta, Narod Steven A, Lubi?ski J |
| CHEK2 mutations and papillary thyroid cancer: correlation or coincidence? Hereditary cancer in clinical practice 2022 Jan 20 (1): 5. Koen Kortbeek, Robin De Putter, Eline Nae |
| Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. Asia-Pacific journal of clinical oncology 2022 Jan . Do Minh Duc, Nguyen Thinh Huu, Le Khuong Thai, Le Linh Hoang Gia, Nguyen Bac Hoang, Le Kien Trung, Doan Thao Phuong Thi, Ho Chuong Quoc, Nguyen Hoai-Nghia, Tran Tuan Diep, Vu Hoang A |
| Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA oncology 2022 Jan . , Mavaddat Nasim, Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Keeman Renske, Bolla Manjeet K, Dennis Joe, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Briceno Ignacio, Brüning Thomas, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Christiansen Hans, Czene Kamila, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, Geisler Jürgen, Giles Graham G, Guénel Pascal, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Hartikainen Jaana M, Hartman Mikael, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Jung Audrey, Khusnutdinova Elza K, Kristensen Vessela N, Li Jingmei, Lim Swee Ho, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Morra Anna, Muir Kenneth, Obi Nadia, Osorio Ana, Park-Simon Tjoung-Won, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Thorne Heather, Tomlinson Ian, Torres Diana, Truong Thérèse, Yip Cheng Har, Spurdle Amanda B, Vreeswijk Maaike P G, Dunning Alison M, García-Closas Montserrat, Pharoah Paul D P, Kvist Anders, Muranen Taru A, Nevanlinna Heli, Teo Soo Hwang, Devilee Peter, Schmidt Marjanka K, Easton Douglas |
| Rare germline copy number variants (CNVs) and breast cancer risk. Communications biology 2022 01 5 (1): 65. Dennis Joe, Tyrer Jonathan P, Walker Logan C, Michailidou Kyriaki, Dorling Leila, Bolla Manjeet K, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Anton-Culver Hoda, Antonenkova Natalia N, Arndt Volker, Aronson Kristan J, Freeman Laura E Beane, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Bogdanova Natalia V, Bojesen Stig E, Brenner Hermann, Castelao Jose E, Chang-Claude Jenny, Chenevix-Trench Georgia, Clarke Christine L, , Collée J Margriet, , Couch Fergus J, Cox Angela, Cross Simon S, Czene Kamila, Devilee Peter, Dörk Thilo, Dossus Laure, Eliassen A Heather, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Fletcher Olivia, Flyger Henrik, Fritschi Lin, Gabrielson Marike, Gago-Dominguez Manuela, García-Closas Montserrat, Giles Graham G, González-Neira Anna, Guénel Pascal, Hahnen Eric, Haiman Christopher A, Hall Per, Hollestelle Antoinette, Hoppe Reiner, Hopper John L, Howell Anthony, , , Jager Agnes, Jakubowska Anna, John Esther M, Johnson Nichola, Jones Michael E, Jung Audrey, Kaaks Rudolf, Keeman Renske, Khusnutdinova Elza, Kitahara Cari M, Ko Yon-Dschun, Kosma Veli-Matti, Koutros Stella, Kraft Peter, Kristensen Vessela N, Kubelka-Sabit Katerina, Kurian Allison W, Lacey James V, Lambrechts Diether, Larson Nicole L, Linet Martha, Ogrodniczak Alicja, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Muranen Taru A, Murphy Rachel A, Nevanlinna Heli, Olson Janet E, Olsson Håkan, Park-Simon Tjoung-Won, Perou Charles M, Peterlongo Paolo, Plaseska-Karanfilska Dijana, Pylkäs Katri, Rennert Gad, Saloustros Emmanouil, Sandler Dale P, Sawyer Elinor J, Schmidt Marjanka K, Schmutzler Rita K, Shibli Rana, Smeets Ann, Soucy Penny, Southey Melissa C, Swerdlow Anthony J, Tamimi Rulla M, Taylor Jack A, Teras Lauren R, Terry Mary Beth, Tomlinson Ian, Troester Melissa A, Truong Thérèse, Vachon Celine M, Wendt Camilla, Winqvist Robert, Wolk Alicja, Yang Xiaohong R, Zheng Wei, Ziogas Argyrios, Simard Jacques, Dunning Alison M, Pharoah Paul D P, Easton Douglas |
| Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome medicine 2021 Dec 13 (1): 185. Ho Peh Joo, Khng Alexis J, Loh Hui Wen, Ho Weang-Kee, Yip Cheng Har, Mohd-Taib Nur Aishah, Tan Veronique Kiak Mien, Tan Benita Kiat-Tee, Tan Su-Ming, Tan Ern Yu, Lim Swee Ho, Jamaris Suniza, Sim Yirong, Wong Fuh Yong, Ngeow Joanne, Lim Elaine Hsuen, Tai Mei Chee, Wijaya Eldarina Azfar, Lee Soo Chin, Chan Ching Wan, Buhari Shaik Ahmad, Chan Patrick M Y, Chen Juliana J C, Seah Jaime Chin Mui, Lee Wai Peng, Mok Chi Wei, Lim Geok Hoon, Woo Evan, Kim Sung-Won, Lee Jong Won, Lee Min Hyuk, Park Sue K, Dunning Alison M, Easton Douglas F, Schmidt Marjanka K, Teo Soo-Hwang, Li Jingmei, Hartman Mika |
| Lapses in breast cancer screening for highly penetrant mutation carriers during pregnancy and lactation. Journal of surgical oncology 2021 Dec . Chichura Anna, Hunt Jonathan, Lang Julie, Pederson Hol |
| Clinical and genomic features of SPOP-mutant prostate cancer. The Prostate 2021 Nov . Nakazawa Mari, Fang Mike, H Marshall Catherine, Lotan Tamara L, Isaacsson Velho Pedro, Antonarakis Emmanuel |
| Genomic Profiling Identified Prognostic Biomarkers of Definitive Chemo-Radiotherapy Response in Esophageal Carcinoma. International journal of radiation oncology, biology, physics 2021 Nov 111 (3S): S13. Li L, Yuan S, Sun J, Yin Y, Cui J, Zhang J, Chen Y, Pang J, Yin J, Shao Y, Yu |
| 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 |
| Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant. Familial cancer 2021 Oct . Laitman Yael, Nielsen Sarah M, Hatchell Kathryn E, Truty Rebecca, Bernstein-Molho Rinat, Esplin Edward D, Friedman Eit |
| Radiation Response Prediction Model based on Integrated Clinical and Genomic Data Analysis. Cancer research and treatment 2021 Aug . Jang Bum-Sup, Chang Ji-Hyun, Jeon Seung Hyuck, Song Myung Geun, Lee Kyung-Hun, Im Seock-Ah, Kim Jong-Il, Kim Tae-You, Chie Eui K |
| A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients. Scientific reports 2021 Jul 11 (1): 14763. Wendt Camilla, Muranen Taru A, Mielikäinen Lotta, Thutkawkorapin Jessada, Blomqvist Carl, Jiao Xiang, Ehrencrona Hans, Tham Emma, Arver Brita, Melin Beatrice, Kuchinskaya Ekaterina, Stenmark Askmalm Marie, Paulsson-Karlsson Ylva, Einbeigi Zakaria, von Wachenfeldt Väppling Anna, Kalso Eija, Tasmuth Tiina, Kallioniemi Anne, Aittomäki Kristiina, Nevanlinna Heli, Borg Åke, Lindblom Anni |
| Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 811-816. Duzkale Neslihan, Oz Ozlem, Turkmenoglu Tugba Taskin, Cetinkaya Kadir, Eren Tulay, Yalcin Suay |
| Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jun . Woodward Emma R, van Veen Elke M, Forde Claire, Harkness Elaine F, Byers Helen J, Ellingford Jamie M, Burghel George J, Schlech Helene, Bowers Naomi L, Wallace Andrew J, Howell Sacha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam J, Gareth Evans |
| Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study. NPJ breast cancer 2021 Jun 7 (1): 76. Li Na, Lim Belle W X, Thompson Ella R, McInerny Simone, Zethoven Magnus, Cheasley Dane, Rowley Simone M, Wong-Brown Michelle W, Devereux Lisa, Gorringe Kylie L, Sloan Erica K, Trainer Alison, Scott Rodney J, James Paul A, Campbell Ian |
| Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 Jun JCO2001992. Gao Chi, Polley Eric C, Hart Steven N, Huang Hongyan, Hu Chunling, Gnanaolivu Rohan, Lilyquist Jenna, Boddicker Nicholas J, Na Jie, Ambrosone Christine B, Auer Paul L, Bernstein Leslie, Burnside Elizabeth S, Eliassen A Heather, Gaudet Mia M, Haiman Christopher, Hunter David J, Jacobs Eric J, John Esther M, Lindström Sara, Ma Huiyan, Neuhausen Susan L, Newcomb Polly A, O'Brien Katie M, Olson Janet E, Ong Irene M, Patel Alpa V, Palmer Julie R, Sandler Dale P, Tamimi Rulla, Taylor Jack A, Teras Lauren R, Trentham-Dietz Amy, Vachon Celine M, Weinberg Clarice R, Yao Song, Weitzel Jeffrey N, Goldgar David E, Domchek Susan M, Nathanson Katherine L, Couch Fergus J, Kraft Pet |
| Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. Cancers 2021 May 13 (11): . Solano Angela R, Mele Pablo G, Jalil Fernanda S, Liria Natalia C, Podesta Ernesto J, Gutiérrez Leandro |
| A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer. Endocrine 2021 Mar . Pires Carolina, Marques Inês Jorge, Dias Daniela, Saramago Ana, Leite Valeriano, Cavaco Branca Mar |
| Extended gene panel testing in lobular breast cancer. Familial cancer 2021 Mar . van Veen Elke M, Evans D Gareth, Harkness Elaine F, Byers Helen J, Ellingford Jamie M, Woodward Emma R, Bowers Naomi L, Wallace Andrew J, Howell Sacha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam |
| Plasma tumor gene conversions after one cycle abiraterone acetate for metastatic castration-resistant prostate cancer: a biomarker analysis of a multicenter international trial. Annals of oncology : official journal of the European Society for Medical Oncology 2021 Mar . Jayaram A, Wingate A, Wetterskog D, Wheeler G, Sternberg C N, Jones R, Berruti A, Lefresne F, Lahaye M, Thomas S, Gormley M, Meacham F, Garg K, Lim L P, Merseburger A S, Tombal B, Ricci D, Attard |
| The results of multigene panel sequencing in Slovak HBOC families. Neoplasma 2021 Mar . Konecny Michal, Kosova Klaudia, Tilandyova Petra, Wachsmannova Lenka, Baldovic Marian, Krajcovic Juraj, Patlevicova Andrea, Markus Jan, Ciernikova So |
| Genetic Profiles of Aggressive Variants of Papillary Thyroid Carcinomas. Cancers 2021 Feb 13 (4): . Jin Meihua, Song Dong Eun, Ahn Jonghwa, Song Eyun, Lee Yu-Mi, Sung Tae-Yon, Kim Tae Yong, Kim Won Bae, Shong Young Kee, Jeon Min Ji, Kim Won |
| A Population-Based Study of Genes Previously Implicated in Breast Cancer. The New England journal of medicine 2021 Jan . Hu Chunling, Hart Steven N, Gnanaolivu Rohan, Huang Hongyan, Lee Kun Y, Na Jie, Gao Chi, Lilyquist Jenna, Yadav Siddhartha, Boddicker Nicholas J, Samara Raed, Klebba Josh, Ambrosone Christine B, Anton-Culver Hoda, Auer Paul, Bandera Elisa V, Bernstein Leslie, Bertrand Kimberly A, Burnside Elizabeth S, Carter Brian D, Eliassen Heather, Gapstur Susan M, Gaudet Mia, Haiman Christopher, Hodge James M, Hunter David J, Jacobs Eric J, John Esther M, Kooperberg Charles, Kurian Allison W, Le Marchand Loic, Lindstroem Sara, Lindstrom Tricia, Ma Huiyan, Neuhausen Susan, Newcomb Polly A, O'Brien Katie M, Olson Janet E, Ong Irene M, Pal Tuya, Palmer Julie R, Patel Alpa V, Reid Sonya, Rosenberg Lynn, Sandler Dale P, Scott Christopher, Tamimi Rulla, Taylor Jack A, Trentham-Dietz Amy, Vachon Celine M, Weinberg Clarice, Yao Song, Ziogas Argyrios, Weitzel Jeffrey N, Goldgar David E, Domchek Susan M, Nathanson Katherine L, Kraft Peter, Polley Eric C, Couch Fergus |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. The New England journal of medicine 2021 Jan . , Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Luccarini Craig, Wahlström Cecilia, Pooley Karen A, Parsons Michael T, Fortuno Cristina, Wang Qin, Bolla Manjeet K, Dennis Joe, Keeman Renske, Alonso M Rosario, Álvarez Nuria, Herraez Belen, Fernandez Victoria, Núñez-Torres Rocio, Osorio Ana, Valcich Jeanette, Li Minerva, Törngren Therese, Harrington Patricia A, Baynes Caroline, Conroy Don M, Decker Brennan, Fachal Laura, Mavaddat Nasim, Ahearn Thomas, Aittomäki Kristiina, Antonenkova Natalia N, Arnold Norbert, Arveux Patrick, Ausems Margreet G E M, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bialkowska Katarzyna, Blomqvist Carl, Bogdanova Natalia V, Bogdanova-Markov Nadja, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Briceno Ignacio, Brüning Thomas, Burwinkel Barbara, Cameron David A, Camp Nicola J, Campbell Archie, Carracedo Angel, Castelao Jose E, Cessna Melissa H, Chanock Stephen J, Christiansen Hans, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Czene Kamila, Dörk Thilo, Ekici Arif B, Engel Christoph, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Försti Asta, Gabrielson Marike, Gago-Dominguez Manuela, Georgoulias Vassilios, Gil Fabian, Giles Graham G, Glendon Gord, Garcia Encarna B Gómez, Alnæs Grethe I Grenaker, Guénel Pascal, Hadjisavvas Andreas, Haeberle Lothar, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartikainen Jaana M, Hartman Mikael, He Wei, Heemskerk-Gerritsen Bernadette A M, Hillemanns Peter, Hogervorst Frans B L, Hollestelle Antoinette, Ho Weang Kee, Hooning Maartje J, Howell Anthony, Humphreys Keith, Idris Faiza, Jakubowska Anna, Jung Audrey, Kapoor Pooja Middha, Kerin Michael J, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kosma Veli-Matti, Kristensen Vessela N, Kyriacou Kyriacos, Lakeman Inge M M, Lee Jong Won, Lee Min Hyuk, Li Jingmei, Lindblom Annika, Lo Wing-Yee, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, MacInnis Robert J, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Martinez Maria Elena, Maurer Tabea, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Mensenkamp Arjen R, Michailidou Kyriaki, Miller Nicola, Mohd Taib Nur Aishah, Muir Kenneth, Mulligan Anna Marie, Nevanlinna Heli, Newman William G, Nordestgaard Børge G, Ng Pei-Sze, Oosterwijk Jan C, Park Sue K, Park-Simon Tjoung-Won, Perez Jose I A, Peterlongo Paolo, Porteous David J, Prajzendanc Karolina, Prokofyeva Darya, Radice Paolo, Rashid Muhammad U, Rhenius Valerie, Rookus Matti A, Rüdiger Thomas, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Schneeweiss Andreas, Schürmann Peter, Shah Mitul, Sohn Christof, Southey Melissa C, Surowy Harald, Suvanto Maija, Thanasitthichai Somchai, Tomlinson Ian, Torres Diana, Truong Thérèse, Tzardi Maria, Valova Yana, van Asperen Christi J, Van Dam Rob M, van den Ouweland Ans M W, van der Kolk Lizet E, van Veen Elke M, Wendt Camilla, Williams Justin A, Yang Xiaohong R, Yoon Sook-Yee, Zamora M Pilar, Evans D Gareth, de la Hoya Miguel, Simard Jacques, Antoniou Antonis C, Borg Åke, Andrulis Irene L, Chang-Claude Jenny, García-Closas Montserrat, Chenevix-Trench Georgia, Milne Roger L, Pharoah Paul D P, Schmidt Marjanka K, Spurdle Amanda B, Vreeswijk Maaike P G, Benitez Javier, Dunning Alison M, Kvist Anders, Teo Soo H, Devilee Peter, Easton Douglas |
| Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma. Cancers 2021 Jan 13 (2): . Fountzilas Elena, Eliades Alexia, Koliou Georgia-Angeliki, Achilleos Achilleas, Loizides Charalambos, Tsangaras Kyriakos, Pectasides Dimitrios, Sgouros Joseph, Papakostas Pavlos, Rallis Grigorios, Psyrri Amanda, Papadimitriou Christos, Oikonomopoulos Georgios, Ferentinos Konstantinos, Koumarianou Anna, Zarkavelis George, Dervenis Christos, Aravantinos Gerasimos, Bafaloukos Dimitrios, Kosmidis Paris, Papaxoinis George, Theochari Maria, Varthalitis Ioannis, Kentepozidis Nikolaos, Rigakos Georgios, Saridaki Zacharenia, Nikolaidi Adamantia, Christopoulou Athina, Fostira Florentia, Samantas Epaminontas, Kypri Elena, Ioannides Marios, Koumbaris George, Fountzilas George, Patsalis Philippos |
| Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2021 Jan . Lotan Tamara L, Kaur Harsimar B, Salles Daniela C, Murali Sanjana, Schaeffer Edward M, Lanchbury Jerry S, Isaacs William B, Brown Robert, Richardson Andrea L, Cussenot Olivier, Cancel-Tassin Geraldine, Timms Kirsten M, Antonarakis Emmanuel |
| Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO precision oncology 2021 5 . Kim Jung, Light Nicholas, Subasri Vallijah, Young Erin L, Wegman-Ostrosky Talia, Barkauskas Donald A, Hall David, Lupo Philip J, Patidar Rajesh, Maese Luke D, Jones Kristine, Wang Mingyi, Tavtigian Sean V, Wu Dongjing, Shlien Adam, Telfer Frank, Goldenberg Anna, Skapek Stephen X, Wei Jun S, Wen Xinyu, Catchpoole Daniel, Hawkins Douglas S, Schiffman Joshua D, Khan Javed, Malkin David, Stewart Douglas |
| Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one 2021 16 (9): e0257132. Z?owocka-Per?owska El?bieta, D?bniak Tadeusz, S?ojewski Marcin, van de Wetering Thierry, To?oczko-Grabarek Aleksandra, Cybulski Cezary, Scott Rodney J, Lubi?ski J |
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