Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: FANCC: 584A>T; Asp195Val
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.
Plos One
Dansonka-Mieszkowska, Agnieszka A; Szafron, Laura Aleksandra LA; Kulesza, Magdalena M; Stachurska, Anna A; Leszczynski, Pawel P; Tomczyk-Szatkowska, Agnieszka A; Sobiczewski, Piotr P; Parada, Joanna J; Kulinczak, Mariusz M; Moes-Sosnowska, Joanna J; Pienkowska-Grela, Barbara B; Kupryjanczyk, Jolanta J; Chechlinska, Magdalena M; Szafron, Lukasz Michal LM
Publication Date: 2022
Variant appearance in text: FANCC: 584A>T; Asp195Val; rs1800365
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: FANCC: 584A>T; D195V; rs1800365
A phase II single-arm study of pembrolizumab with enzalutamide in men with metastatic castration-resistant prostate cancer progressing on enzalutamide alone.
Journal For Immunotherapy Of Cancer
Graff, Julie N JN; Beer, Tomasz M TM; Alumkal, Joshi J JJ; Slottke, Rachel E RE; Redmond, William L WL; Thomas, George V GV; Thompson, Reid F RF; Wood, Mary A MA; Koguchi, Yoshinobu Y; Chen, Yiyi Y; Latour, Emile E; Bergan, Raymond C RC; Drake, Charles G CG; Moran, Amy E AE
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
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
Ebiomedicine
Earl, Julie J; Galindo-Pumariño, Cristina C; Encinas, Jessica J; Barreto, Emma E; Castillo, Maria E ME; Pachón, Vanessa V; Ferreiro, Reyes R; Rodríguez-Garrote, Mercedes M; González-Martínez, Silvia S; Ramon Y Cajal, Teresa T; Diaz, Luis Robles LR; Chirivella-Gonzalez, Isabel I; Rodriguez, Montse M; de Castro, Eva Martínez EM; García-Seisdedos, David D; Muñoz, Gloria G; Rosa, Juan Manuel Rosa JMR; Marquez, Mirari M; Malats, Nuría N; Carrato, Alfredo A
Publication Date: 2020-03
Variant appearance in text: FANCC: 584A>T; Asp195Val
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: FANCC: 584A>T; D195V; rs1800365
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
A novel molecular diagnostics platform for somatic and germline precision oncology.
Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: FANCC: D195V; rs1800365
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: FANCC: D195V; rs1800365
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: FANCC: D195V; rs1800365
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
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