Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.
Frontiers In Oncology
Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Gifoni, Markus Andret Cavalcante MAC; Wotroba, Camila Martins CM; Palmero, Edenir Inez EI; Costa, Eduardo Leite Vieira ELV; Dos Santos, Wellington W; Achatz, Maria Isabel MI
Publication Date: 2022
Variant appearance in text: DIS3L2: 1447C>G; Arg483Gly
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12
Variant appearance in text: DIS3L2: 1447C>G; Arg483Gly
Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.
The Journal Of Pathology. Clinical Research
Kutasovic, Jamie R JR; McCart Reed, Amy E AE; Males, Renique R; Sim, Sarah S; Saunus, Jodi M JM; Dalley, Andrew A; McEvoy, Christopher R CR; Dedina, Liana L; Miller, Gregory G; Peyton, Stephen S; Reid, Lynne L; Lal, Samir S; Niland, Colleen C; Ferguson, Kaltin K; Fellowes, Andrew P AP; Al-Ejeh, Fares F; Lakhani, Sunil R SR; Cummings, Margaret C MC; Simpson, Peter T PT
Publication Date: 2019-01
Variant appearance in text: DIS3L2: 1447C>G; Arg483Gly; rs186865544
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: DIS3L2: 1447C>G; R483G
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
Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.
Nature Communications
Torrezan, Giovana T GT; Ferreira, Elisa N EN; Nakahata, Adriana M AM; Barros, Bruna D F BD; Castro, Mayra T M MT; Correa, Bruna R BR; Krepischi, Ana C V AC; Olivieri, Eloisa H R EH; Cunha, Isabela W IW; Tabori, Uri U; Grundy, Paul E PE; Costa, Cecilia M L CM; de Camargo, Beatriz B; Galante, Pedro A F PA; Carraro, Dirce M DM
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