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Page 1
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT, Guitton-Sert L, Alenezi WM, Revil T, Oros KK, Gao Y, Bedard K, Arcand SL, Serruya C, Behl S, Meunier L, Fleury H, Fewings E, Subramanian DN, Nadaf J, Bruce JP, Bell R, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Majewski J, Pugh TJ, Tischkowitz M, James PA, Campbell IG, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN. Fierheller CT, et al. Among authors: subramanian dn. Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5. Genome Med. 2021. PMID: 34861889 Free PMC article.
Breast-cancer risk in families with mutations in PALB2.
Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M. Antoniou AC, et al. N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382. N Engl J Med. 2014. PMID: 25099575 Free PMC article.
Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes.
Meagher NS, Gorringe KL, Wakefield M, Bolithon A, Pang CNI, Chiu DS, Anglesio MS, Mallitt KA, Doherty JA, Harris HR, Schildkraut JM, Berchuck A, Cushing-Haugen KL, Chezar K, Chou A, Tan A, Alsop J, Barlow E, Beckmann MW, Boros J, Bowtell DDL; AOCS Group; Brand AH, Brenton JD, Campbell I, Cheasley D, Cohen J, Cybulski C, Elishaev E, Erber R, Farrell R, Fischer A, Fu Z, Gilks B, Gill AJ; Australian Pancreatic Genome Initiative; Gourley C, Grube M, Harnett PR, Hartmann A, Hettiaratchi A, Høgdall CK, Huzarski T, Jakubowska A, Jimenez-Linan M, Kennedy CJ, Kim BG, Kim JW, Kim JH, Klett K, Koziak JM, Lai T, Laslavic A, Lester J, Leung Y, Li N, Liauw W, Lim BWX, Linder A, Lubiński J, Mahale S, Mateoiu C, McInerny S, Menkiszak J, Minoo P, Mittelstadt S, Morris D, Orsulic S, Park SY, Pearce CL, Pearson JV, Pike MC, Quinn CM, Mohan GR, Rao J, Riggan MJ, Ruebner M, Salfinger S, Scott CL, Shah M, Steed H, Stewart CJR, Subramanian D, Sung S, Tang K, Timpson P, Ward RL, Wiedenhoefer R, Thorne H; kConFab Investigators; Cohen PA, Crowe P, Fasching PA, Gronwald J, Hawkins NJ, Høgdall E, Huntsman DG, James PA, Karlan BY, Kelemen LE, Kommoss S, Konecny GE, Modugno F, Park SK, Staebler A, Sundfeldt K,… See abstract for full author list ➔ Meagher NS, et al. Clin Cancer Res. 2022 Dec 15;28(24):5383-5395. doi: 10.1158/1078-0432.CCR-22-1206. Clin Cancer Res. 2022. PMID: 36222710 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros KK, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell IG, Mes-Masson AM, Provencher D, Foulkes WD, Haffaf ZE, Rouleau G, Bouchard L, Greenwood CMT, Ragoussis J, Tonin PN. Alenezi WM, et al. Among authors: subramanian dn. Front Oncol. 2023 Mar 8;13:1111191. doi: 10.3389/fonc.2023.1111191. eCollection 2023. Front Oncol. 2023. PMID: 36969007 Free PMC article.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN. Fierheller CT, et al. Among authors: subramanian dn. Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277. Genes (Basel). 2023. PMID: 36833203 Free PMC article.
19 results