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: FANCC: 553C>T; Arg185Ter; rs121917783
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
Publication Date: 2023-02-23
Variant appearance in text: FANCC: 553C>T; Arg185Ter
Germline pathogenic variants in 786 neuroblastoma patients.
Medrxiv : The Preprint Server For Health Sciences
Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ
Publication Date: 2023-01-25
Variant appearance in text: FANCC: 553C>T; R185X; rs121917783
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05
Variant appearance in text: FANCC: 553C>T; R185*; rs121917783
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Rotunno, Melissa M; Barajas, Rolando R; Clyne, Mindy M; Hoover, Elise E; Simonds, Naoko I NI; Lam, Tram Kim TK; Mechanic, Leah E LE; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM
Publication Date: 2020-08
Variant appearance in text: FANCC: R185*; rs121917783
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Nature Communications
Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM
Two truncating variants in FANCC and breast cancer risk.
Scientific Reports
Dörk, Thilo T; Peterlongo, Paolo P; Mannermaa, Arto A; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Ahearn, Thomas T; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Aronson, Kristan J KJ; Augustinsson, Annelie A; Freeman, Laura E Beane LEB; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Behrens, Sabine S; Bermisheva, Marina M; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brauch, Hiltrud H; Brenner, Hermann H; Burwinkel, Barbara B; Canzian, Federico F; Chan, Tsun L TL; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Choi, Ji-Yeob JY; Christiansen, Hans H; Clarke, Christine L CL; Couch, Fergus J FJ; Czene, Kamila K; Daly, Mary B MB; Dos-Santos-Silva, Isabel I; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Fritschi, Lin L; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gao, Chi C; Gapstur, Susan M SM; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Giles, Graham G GG; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Haeberle, Lothar L; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hauke, Jan J; Hein, Alexander A; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Tony T; Huo, Dezheng D; Ito, Hidemi H; Iwasaki, Motoki M; Jakubowska, Anna A; Janni, Wolfgang W; John, Esther M EM; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Khusnutdinova, Elza E; Kim, Sung-Won SW; Kitahara, Cari M CM; Koutros, Stella S; Kraft, Peter P; Kristensen, Vessela N VN; Kwong, Ava A; Lambrechts, Diether D; Marchand, Loic Le LL; Li, Jingmei J; Lindström, Sara S; Linet, Martha M; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Lubiński, Jan J; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Elena E; Matsuo, Keitaro K; Mavroudis, Dimitris D; Meindl, Alfons A; Menon, Usha U; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Mulligan, Anna Marie AM; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Newman, William G WG; Offit, Kenneth K; Olopade, Olufunmilayo I OI; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Pohl-Rescigno, Esther E; Presneau, Nadege N; Rack, Brigitte B; Radice, Paolo P; Rashid, Muhammad U MU; Rennert, Gad G; Rennert, Hedy S HS; Romero, Atocha A; Ruebner, Matthias M; Saloustros, Emmanouil E; Schmidt, Marjanka K MK; Schmutzler, Rita K RK; Schneider, Michael O MO; Schoemaker, Minouk J MJ; Scott, Christopher C; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Simard, Jacques J; Slager, Susan S; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Stone, Jennifer J; Surowy, Harald H; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Teo, Soo H SH; Terry, Mary Beth MB; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tsugane, Shoichiro S; Untch, Michael M; Vachon, Celine M CM; Ouweland, Ans M W van den AMWVD; Veen, Elke M van EMV; Vijai, Joseph J; Wendt, Camilla C; Wolk, Alicja A; Yu, Jyh-Cherng JC; Zheng, Wei W; Ziogas, Argyrios A; Ziv, Elad E; , ; , ; Dunning, Alison M AM; Pharoah, Paul D P PDP; Schindler, Detlev D; Devilee, Peter P; Easton, Douglas F DF
Publication Date: 2019-08-29
Variant appearance in text: FANCC: R185X; rs121917783
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: FANCC: R185X; rs121917783
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08
Variant appearance in text: FANCC: 553C>T; Arg185Ter
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Blood
Chandrasekharappa, Settara C SC; Lach, Francis P FP; Kimble, Danielle C DC; Kamat, Aparna A; Teer, Jamie K JK; Donovan, Frank X FX; Flynn, Elizabeth E; Sen, Shurjo K SK; Thongthip, Supawat S; Sanborn, Erica E; Smogorzewska, Agata A; Auerbach, Arleen D AD; Ostrander, Elaine A EA; ,
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: FANCC: 553C>T; R185*; rs121917783
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Plos Genetics
Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG
Publication Date: 2012-09
Variant appearance in text: FANCC: 553C>T; Arg185*
Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.
Molecular Cancer
Palagyi, Andreas A; Neveling, Kornelia K; Plinninger, Ursula U; Ziesch, Andreas A; Targosz, Bianca-Sabrina BS; Denk, Gerald U GU; Ochs, Stephanie S; Rizzani, Antonia A; Meier, Daniel D; Thasler, Wolfgang E WE; Hanenberg, Helmut H; De Toni, Enrico N EN; Bassermann, Florian F; Schäfer, Claus C; Göke, Burkhard B; Schindler, Detlev D; Gallmeier, Eike E