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Showing 25 to 36 of 219 entries
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Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries.

International journal of epidemiology

Hurson AN, Pal Choudhury P, Gao C, Hüsing A, Eriksson M, Shi M, Jones ME, Evans DGR, Milne RL, Gaudet MM, Vachon CM, Chasman DI, Easton DF, Schmidt MK, Kraft P, Garcia-Closas M, Chatterjee N.
PMID: 33755131
Int J Epidemiol. 2021 Mar 23; doi: 10.1093/ije/dyab036. Epub 2021 Mar 23.

BACKGROUND: Rigorous evaluation of the calibration and discrimination of breast-cancer risk-prediction models in prospective cohorts is critical for applications under clinical guidelines. We comprehensively evaluated an integrated model incorporating classical risk factors and a 313-variant polygenic risk score (PRS)...

Mucosal immunization with the Moraxella Catarrhalis porin m35 induces enhanced bacterial clearance from the lung: a possible role for opsonophagocytosis.

Frontiers in immunology

Easton DM, Cripps AW, Foxwell AR, Kyd JM.
PMID: 22566804
Front Immunol. 2011 May 16;2:13. doi: 10.3389/fimmu.2011.00013. eCollection 2011.

Moraxella catarrhalis is a significant cause of respiratory tract infection against which a vaccine is sought. Several outer membrane proteins are currently under investigation as potential vaccine antigens, including the porin M35. We have previously shown that the third...

Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.

HGG advances

Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Bishop T, Cheng IC, Huyghe JR, Schmit SL, O'Mara TA, Spurdle AB, Gharahkhani P, Schumacher J, Jankowski J, Gocke I, Bondy ML, Houlston RS, Jenkins RB, Melin B, Lesseur C, Ness AR, Diergaarde B, Olshan AF, Amos CI, Christiani DC, Landi MT, McKay JD, Brossard M, Iles MM, Law MH, MacGregor S, Beesley J, Jones MR, Tyrer J, Winham SJ, Klein AP, Petersen G, Li D, Wolpin BM, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S.
PMID: 34355204
HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100041. Epub 2021 Jun 12.

Genome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our understanding of global mechanisms of cancer development. In this study, we...

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

NPJ breast cancer

Li N, Zethoven M, McInerny S, Devereux L, Huang YK, Thio N, Cheasley D, Gutiérrez-Enríquez S, Moles-Fernández A, Diez O, Nguyen-Dumont T, Southey MC, Hopper JL, Simard J, Dumont M, Soucy P, Meindl A, Schmutzler R, Schmidt MK, Adank MA, Andrulis IL, Hahnen E, Engel C, Lesueur F, Girard E, Neuhausen SL, Ziv E, Allen J, Easton DF, Scott RJ, Gorringe KL, James PA, Campbell IG.
PMID: 33980861
NPJ Breast Cancer. 2021 May 12;7(1):52. doi: 10.1038/s41523-021-00255-3.

Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary breast cancer is unknown. An analysis of 4985 women...

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Nature communications

Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
PMID: 33990587
Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.

A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer.

Genome medicine

López de Maturana E, Rodríguez JA, Alonso L, Lao O, Molina-Montes E, Martín-Antoniano IA, Gómez-Rubio P, Lawlor R, Carrato A, Hidalgo M, Iglesias M, Molero X, Löhr M, Michalski C, Perea J, O'Rorke M, Barberà VM, Tardón A, Farré A, Muñoz-Bellvís L, Crnogorac-Jurcevic T, Domínguez-Muñoz E, Gress T, Greenhalf W, Sharp L, Arnes L, Cecchini L, Balsells J, Costello E, Ilzarbe L, Kleeff J, Kong B, Márquez M, Mora J, O'Driscoll D, Scarpa A, Ye W, Yu J, García-Closas M, Kogevinas M, Rothman N, Silverman DT, Albanes D, Arslan AA, Beane-Freeman L, Bracci PM, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Du M, Gallinger S, Gaziano JM, Goodman PJ, Gunter M, LeMarchand L, Li D, Neale RE, Peters U, Petersen GM, Risch HA, Sánchez MJ, Shu XO, Thornquist MD, Visvanathan K, Zheng W, Chanock SJ, Easton D, Wolpin BM, Stolzenberg-Solomon RZ, Klein AP, Amundadottir LT, Marti-Renom MA, Real FX, Malats N.
PMID: 33517887
Genome Med. 2021 Feb 01;13(1):15. doi: 10.1186/s13073-020-00816-4.

BACKGROUND: Pancreatic cancer (PC) is a complex disease in which both non-genetic and genetic factors interplay. To date, 40 GWAS hits have been associated with PC risk in individuals of European descent, explaining 4.1% of the phenotypic variance.METHODS: We...

Characterizing a gene expression toolkit for eye- and photoreceptor-specific expression in Drosophila.

Fly

Escobedo SE, Shah A, Easton AN, Hall H, Weake VM.
PMID: 33899690
Fly (Austin). 2021 Dec;15(1):73-88. doi: 10.1080/19336934.2021.1915683.

Binary expression systems are a powerful tool for tissue- and cell-specific research. Many of the currently available

Carotid Stenosis and Recurrent Ischemic Stroke: A Post-Hoc Analysis of the POINT Trial.

Stroke

Yaghi S, de Havenon A, Rostanski S, Kvernland A, Mac Grory B, Furie KL, Kim AS, Easton JD, Johnston SC, Henninger N.
PMID: 33940954
Stroke. 2021 Jul;52(7):2414-2417. doi: 10.1161/STROKEAHA.121.034089. Epub 2021 May 04.

BACKGROUND AND PURPOSE: Randomized trials demonstrated the benefit of dual antiplatelet therapy in patients with minor ischemic stroke or high-risk transient ischemic attack. We sought to determine whether the presence of carotid stenosis was associated with increased risk of...

Characterisation of protein-truncating and missense variants in .

Journal of medical genetics

Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH.
PMID: 33811135
J Med Genet. 2021 Apr 02; doi: 10.1136/jmedgenet-2020-107471. Epub 2021 Apr 02.

BACKGROUND: Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (METHODS: Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell based...

Provocation and target gender as moderators of the relationship between acute alcohol use and female perpetrated aggression.

Aggression and violent behavior

Crane CA, Schlauch RC, Testa M, Easton CJ.
PMID: 34045918
Aggress Violent Behav. 2019 May-Jun;40:39-43. doi: 10.1016/j.avb.2018.03.001. Epub 2018 Mar 06.

Acute alcohol use appears to exert a small but significant effect on female perpetrated aggression in the laboratory but there has been no effort to evaluate comprehensively the situational moderators of this relationship. This preliminary review was intended to...

Now you see me: first records of the greater amberjack Seriola dumerili at Rapa Nui (Easter Island), the result of range extension or increased scientific effort?.

Journal of fish biology

Morales N, Coghlan AR, Easton EE, Friedlander AM, Herlan J, Gaymer CF.
PMID: 34931706
J Fish Biol. 2021 Dec 20; doi: 10.1111/jfb.14983. Epub 2021 Dec 20.

We report new records of the fisheries-harvested subtropical greater amberjack Seriola dumerili for the south-east Pacific Ocean. Previously, only one species of Seriola (the yellowtail amberjack Seriola lalandi) was scientifically recorded for Rapa Nui (also known as Easter Island)...

Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.

Journal of medical genetics

Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
PMID: 34844974
J Med Genet. 2021 Nov 29; doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.

BACKGROUND: Epithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk factors (RFs) for EOC can...

Showing 25 to 36 of 219 entries