Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Biomedicines
Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS
Publication Date: 2023-05-08
Variant appearance in text: ATM: 5932G>T; Glu1978Ter
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
Frontiers In Oncology
Colombo, Mara M; Mondini, Patrizia P; Minenza, Elisa E; Foglia, Claudia C; Mosconi, Annamaria A; Molica, Carmen C; Pistola, Lorenza L; Ludovini, Vienna V; Radice, Paolo P
Publication Date: 2023
Variant appearance in text: ATM: 5932G>T; Glu1978Ter
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: ATM: 5932G>T; E1978*; rs587779852
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
Genes
Nassar, Auhood A; Zekri, Abdel-Rahman N AN; Kamel, Mahmoud M MM; Elberry, Mostafa H MH; Lotfy, Mai M MM; Seadawy, Mohamed G MG; Hassan, Zeinab K ZK; Soliman, Hany K HK; Lymona, Ahmed M AM; Youssef, Amira Salah El-Din ASE
Publication Date: 2022-12-29
Variant appearance in text: ATM: 5932G>T; rs587779852
Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pietzak, Eugene J EJ; Whiting, Karissa K; Srinivasan, Preethi P; Bandlamudi, Chaitanya C; Khurram, Aliya A; Joseph, Vijai V; Walasek, Aleksandra A; Bochner, Emily E; Clinton, Timothy T; Almassi, Nima N; Truong, Hong H; de Jesus Escano, Manuel R MR; Wiseman, Michal M; Mandelker, Diana D; Kemel, Yelena Y; Zhang, Liying L; Walsh, Michael F MF; Cadoo, Karen A KA; Coleman, Jonathan A JA; Al-Ahmadie, Hikmat H; Rosenberg, Jonathan E JE; Iyer, Gopakumar V GV; Solit, David B DB; Ostrovnaya, Irina I; Offit, Kenneth K; Robson, Mark E ME; Stadler, Zsofia K ZK; Berger, Michael F MF; Bajorin, Dean F DF; Carlo, Maria M; Bochner, Bernard H BH
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Therapeutic Advances In Medical Oncology
Emelyanova, Marina M; Pudova, Elena E; Khomich, Darya D; Krasnov, George G; Popova, Anna A; Abramov, Ivan I; Mikhailovich, Vladimir V; Filipenko, Maxim M; Menshikova, Sofia S; Tjulandin, Sergey S; Pokataev, Ilya I
Publication Date: 2022
Variant appearance in text: ATM: E1978X; rs587779852
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: ATM: 5932G>T; E1978*; rs587779852
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
Scientific Reports
Escala-Garcia, Maria M; Canisius, Sander S; Keeman, Renske R; Beesley, Jonathan J; Anton-Culver, Hoda H; Arndt, Volker V; Augustinsson, Annelie A; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bojesen, Stig E SE; Bolla, Manjeet K MK; Brenner, Hermann H; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Couch, Fergus J FJ; Czene, Kamila K; Daly, Mary B MB; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dunning, Alison M AM; Easton, Douglas F DF; Ekici, Arif B AB; Eliassen, A Heather AH; Fasching, Peter A PA; Flyger, Henrik H; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; García-Sáenz, José A JA; Geisler, Jürgen J; Giles, Graham G GG; Grip, Mervi M; Gündert, Melanie M; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Hartikainen, Jaana M JM; Heemskerk-Gerritsen, Bernadette A M BAM; Hollestelle, Antoinette A; Hoppe, Reiner R; Hopper, John L JL; Hunter, David J DJ; Jacot, William W; Jakubowska, Anna A; John, Esther M EM; Jung, Audrey Y AY; Kaaks, Rudolf R; Khusnutdinova, Elza E; Koppert, Linetta B LB; Kraft, Peter P; Kristensen, Vessela N VN; Kurian, Allison W AW; Lambrechts, Diether D; Le Marchand, Loic L; Lindblom, Annika A; Luben, Robert N RN; Lubiński, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Muranen, Taru A TA; Nevanlinna, Heli H; Olshan, Andrew F AF; Olsson, Håkan H; Park-Simon, Tjoung-Won TW; Patel, Alpa V AV; Peterlongo, Paolo P; Pharoah, Paul D P PDP; Punie, Kevin K; Radice, Paolo P; Rennert, Gad G; Rennert, Hedy S HS; Romero, Atocha A; Roylance, Rebecca R; Rüdiger, Thomas T; Ruebner, Matthias M; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Christopher C; Southey, Melissa C MC; Surowy, Harald H; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Teras, Lauren R LR; Thomas, Emilie E; Tomlinson, Ian I; Troester, Melissa A MA; Vachon, Celine M CM; Wang, Qin Q; Winqvist, Robert R; Wolk, Alicja A; Ziogas, Argyrios A; , ; Michailidou, Kyriaki K; Chenevix-Trench, Georgia G; Bachelot, Thomas T; Schmidt, Marjanka K MK
The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers.
Archives Of Medical Science : Ams
Podralska, Marta M; Dzikiewicz-Krawczyk, Agnieszka A; Mosor, Maria M; Żurawek, Magdalena M; Iżykowska, Katarzyna K; Słomski, Ryszard R; Rydzanicz, Małgorzata M; Gabryel, Piotr P; Dyszkiewicz, Wojciech W; Ziółkowska-Suchanek, Iwona I
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: ATM: 5932G>T; Glu1978*
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: ATM: 5932G>T; Glu1978*
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
European Urology Oncology
Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z
Common germline-somatic variant interactions in advanced urothelial cancer.
Nature Communications
Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM
Publication Date: 2020-12-03
Variant appearance in text: ATM: 5932G>T; Glu1978*; rs587779852
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Scientific Reports
Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Brosda, Sandra S; Patel, Kalpana K; Koufariotis, Lambros T LT; Oey, Harald H; Nones, Katia K; Wood, Scott S; Pearson, John V JV; Lonie, James M JM; Arneil, Melissa M; Atkinson, Victoria V; Smithers, B Mark BM; Waddell, Nicola N; Barbour, Andrew P AP
Publication Date: 2020-10-19
Variant appearance in text: ATM: E1978*; rs587779852
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Biomedicines
Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Frontiers In Immunology
Strand, Janne J; Gul, Kiran Aftab KA; Erichsen, Hans Christian HC; Lundman, Emma E; Berge, Mona C MC; Trømborg, Anette K AK; Sørgjerd, Linda K LK; Ytre-Arne, Mari M; Hogner, Silje S; Halsne, Ruth R; Gaup, Hege Junita HJ; Osnes, Liv T LT; Kro, Grete A B GAB; Sorte, Hanne S HS; Mørkrid, Lars L; Rowe, Alexander D AD; Tangeraas, Trine T; Jørgensen, Jens V JV; Alme, Charlotte C; Bjørndalen, Trude E H TEH; Rønnestad, Arild E AE; Lang, Astri M AM; Rootwelt, Terje T; Buechner, Jochen J; Øverland, Torstein T; Abrahamsen, Tore G TG; Pettersen, Rolf D RD; Stray-Pedersen, Asbjørg A
Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
Current Oncology (Toronto, Ont.)
Aronson, M M; Swallow, C C; Govindarajan, A A; Semotiuk, K K; Cohen, Z Z; Kaurah, P P; Velsher, L L; Ambus, I I; Buckley, K K; Forster-Gibson, C C; Meschino, W S WS; Blumenthal, A A; Kim, R H RH; Brar, S S
Ancestry-specific predisposing germline variants in cancer.
Genome Medicine
Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: ATM: 5932G>T; Glu1978*; rs587779852
BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
Cancers
Suszynska, Malwina M; Kluzniak, Wojciech W; Wokolorczyk, Dominika D; Jakubowska, Anna A; Huzarski, Tomasz T; Gronwald, Jacek J; Debniak, Tadeusz T; Szwiec, Marek M; Ratajska, Magdalena M; Klonowska, Katarzyna K; Narod, Steven S; Bogdanova, Natalia N; Dörk, Thilo T; Lubinski, Jan J; Cybulski, Cezary C; Kozlowski, Piotr P
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Annals Of Neurology
Schon, Katherine K; van Os, Nienke J H NJH; Oscroft, Nicholas N; Baxendale, Helen H; Scoffings, Daniel D; Ray, Julian J; Suri, Mohnish M; Whitehouse, William P WP; Mehta, Puja R PR; Everett, Natasha N; Bottolo, Leonardo L; van de Warrenburg, Bart P BP; Byrd, Philip J PJ; Weemaes, Corry C; Willemsen, Michel A MA; Tischkowitz, Marc M; Taylor, A Malcolm AM; Hensiek, Anke E AE
Publication Date: 2019-02
Variant appearance in text: ATM: 5932G>T; Glu1978Ter
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
Breast Cancer Research : Bcr
Penkert, Judith J; Schmidt, Gunnar G; Hofmann, Winfried W; Schubert, Stephanie S; Schieck, Maximilian M; Auber, Bernd B; Ripperger, Tim T; Hackmann, Karl K; Sturm, Marc M; Prokisch, Holger H; Hille-Betz, Ursula U; Mark, Dorothea D; Illig, Thomas T; Schlegelberger, Brigitte B; Steinemann, Doris D
Publication Date: 2018-08-07
Variant appearance in text: ATM: 5932G>T; Glu1978*; rs587779852
Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.
Cancer Discovery
Aguirre, Andrew J AJ; Nowak, Jonathan A JA; Camarda, Nicholas D ND; Moffitt, Richard A RA; Ghazani, Arezou A AA; Hazar-Rethinam, Mehlika M; Raghavan, Srivatsan S; Kim, Jaegil J; Brais, Lauren K LK; Ragon, Dorisanne D; Welch, Marisa W MW; Reilly, Emma E; McCabe, Devin D; Marini, Lori L; Anderka, Kristin K; Helvie, Karla K; Oliver, Nelly N; Babic, Ana A; Da Silva, Annacarolina A; Nadres, Brandon B; Van Seventer, Emily E EE; Shahzade, Heather A HA; St Pierre, Joseph P JP; Burke, Kelly P KP; Clancy, Thomas T; Cleary, James M JM; Doyle, Leona A LA; Jajoo, Kunal K; McCleary, Nadine J NJ; Meyerhardt, Jeffrey A JA; Murphy, Janet E JE; Ng, Kimmie K; Patel, Anuj K AK; Perez, Kimberly K; Rosenthal, Michael H MH; Rubinson, Douglas A DA; Ryou, Marvin M; Shapiro, Geoffrey I GI; Sicinska, Ewa E; Silverman, Stuart G SG; Nagy, Rebecca J RJ; Lanman, Richard B RB; Knoerzer, Deborah D; Welsch, Dean J DJ; Yurgelun, Matthew B MB; Fuchs, Charles S CS; Garraway, Levi A LA; Getz, Gad G; Hornick, Jason L JL; Johnson, Bruce E BE; Kulke, Matthew H MH; Mayer, Robert J RJ; Miller, Jeffrey W JW; Shyn, Paul B PB; Tuveson, David A DA; Wagle, Nikhil N; Yeh, Jen Jen JJ; Hahn, William C WC; Corcoran, Ryan B RB; Carter, Scott L SL; Wolpin, Brian M BM
Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.
Bmc Cancer
Podralska, Marta M; Ziółkowska-Suchanek, Iwona I; Żurawek, Magdalena M; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R; Nowak, Jerzy J; Stembalska, Agnieszka A; Pesz, Karolina K; Mosor, Maria M