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Items: 1 to 50 of 503

1.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.

NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.

2.

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS.

Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.

3.

Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers.

Pelletier S, Larouche G, Chiquette J, El Haffaf Z, Foulkes WD, Hamet P, Simard J, Dorval M.

J Community Genet. 2019 Oct 28. doi: 10.1007/s12687-019-00438-3. [Epub ahead of print]

PMID:
31659621
4.

Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?

Kotsopoulos J, Gronwald J, Lubinski J, McCuaig J, Lynch HT, Neuhausen SL, Foulkes WD, Weitzel JN, Senter L, Tung N, Eng C, Karlan B, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.

Menopause. 2019 Oct 21. doi: 10.1097/GME.0000000000001437. [Epub ahead of print]

PMID:
31644510
5.

Imaging of DICER1 syndrome.

Guillerman RP, Foulkes WD, Priest JR.

Pediatr Radiol. 2019 Oct;49(11):1488-1505. doi: 10.1007/s00247-019-04429-x. Epub 2019 Oct 16. Review.

PMID:
31620849
6.

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

Page EC, Bancroft EK, Brook MN, Assel M, Hassan Al Battat M, Thomas S, Taylor N, Chamberlain A, Pope J, Raghallaigh HN, Evans DG, Rothwell J, Maehle L, Grindedal EM, James P, Mascarenhas L, McKinley J, Side L, Thomas T, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Jensen TD, Osther PJS, Helfand BT, Genova E, Oldenburg RA, Cybulski C, Wokolorczyk D, Ong KR, Huber C, Lam J, Taylor L, Salinas M, Feliubadaló L, Oosterwijk JC, van Zelst-Stams W, Cook J, Rosario DJ, Domchek S, Powers J, Buys S, O'Toole K, Ausems MGEM, Schmutzler RK, Rhiem K, Izatt L, Tripathi V, Teixeira MR, Cardoso M, Foulkes WD, Aprikian A, van Randeraad H, Davidson R, Longmuir M, Ruijs MWG, Helderman van den Enden ATJM, Adank M, Williams R, Andrews L, Murphy DG, Halliday D, Walker L, Liljegren A, Carlsson S, Azzabi A, Jobson I, Morton C, Shackleton K, Snape K, Hanson H, Harris M, Tischkowitz M, Taylor A, Kirk J, Susman R, Chen-Shtoyerman R, Spigelman A, Pachter N, Ahmed M, Ramon Y Cajal T, Zgajnar J, Brewer C, Gadea N, Brady AF, van Os T, Gallagher D, Johannsson O, Donaldson A, Barwell J, Nicolai N, Friedman E, Obeid E, Greenhalgh L, Murthy V, Copakova L, Saya S, McGrath J, Cooke P, Rønlund K, Richardson K, Henderson A, Teo SH, Arun B, Kast K, Dias A, Aaronson NK, Ardern-Jones A, Bangma CH, Castro E, Dearnaley D, Eccles DM, Tricker K, Eyfjord J, Falconer A, Foster C, Gronberg H, Hamdy FC, Stefansdottir V, Khoo V, Lindeman GJ, Lubinski J, Axcrona K, Mikropoulos C, Mitra A, Moynihan C, Rennert G, Suri M, Wilson P, Dudderidge T; IMPACT Study Collaborators, Offman J, Kote-Jarai Z, Vickers A, Lilja H, Eeles RA.

Eur Urol. 2019 Sep 16. pii: S0302-2838(19)30668-2. doi: 10.1016/j.eururo.2019.08.019. [Epub ahead of print]

7.

[Loss of human ICOSLG results in combined immunodeficiency].

Roussel L, Landekic M, Golizeh M, Gavino C, Zhong MC, Chen J, Faubert D, Blanchet-Cohen A, Dansereau L, Parent MA, Marin S, Luo J, Le C, Ford BR, Langelier M, King IL, Divangahi M, Foulkes WD, Veillette A, Vinh DC.

Med Sci (Paris). 2019 Aug-Sep;35(8-9):625-628. doi: 10.1051/medsci/2019126. Epub 2019 Sep 18. French. No abstract available.

PMID:
31532372
8.

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators, Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS.

NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019.

9.

eIF4A Inhibitors Suppress Cell-Cycle Feedback Response and Acquired Resistance to CDK4/6 Inhibition in Cancer.

Kong T, Xue Y, Cencic R, Zhu X, Monast A, Fu Z, Pilon V, Sangwan V, Guiot MC, Foulkes WD, Porco JA Jr, Park M, Pelletier J, Huang S.

Mol Cancer Ther. 2019 Nov;18(11):2158-2170. doi: 10.1158/1535-7163.MCT-19-0162. Epub 2019 Aug 8.

PMID:
31395685
10.

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply.

Nguyen VH, Bouron-Dal Soglio D, Foulkes WD.

N Engl J Med. 2019 Aug 8;381(6):587. doi: 10.1056/NEJMc1907523. No abstract available.

PMID:
31390510
11.

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

de Kock L, Wu MK, Foulkes WD.

Hum Mutat. 2019 Nov;40(11):1939-1953. doi: 10.1002/humu.23877. Epub 2019 Aug 17.

PMID:
31342592
12.

An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.

Cullinan N, Villani A, Mourad S, Somers GR, Reichman L, van Engelen K, Stephens D, Weksberg R, Foulkes WD, Malkin D, Grant R, Goudie C.

Int J Cancer. 2019 Jul 8. doi: 10.1002/ijc.32561. [Epub ahead of print]

PMID:
31286500
13.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C, Investigators K, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

14.

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.

Friebel TM, Andrulis IL, Balmaña J, Blanco AM, Couch FJ, Daly MB, Domchek SM, Easton DF, Foulkes WD, Ganz PA, Garber J, Glendon G, Greene MH, Hulick PJ, Isaacs C, Jankowitz RC, Karlan BY, Kirk J, Kwong A, Lee A, Lesueur F, Lu KH, Nathanson KL, Neuhausen SL, Offit K, Palmero EI, Sharma P, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Weitzel JN, Collaborators GS, Hoskins KF, Maga T, Parsons MT, McGuffog L, Antoniou AC, Chenevix-Trench G, Huo D, Olopade OI, Rebbeck TR.

Hum Mutat. 2019 Oct;40(10):1781-1796. doi: 10.1002/humu.23804. Epub 2019 Jul 3.

PMID:
31112363
15.

Journey's end: the quest for BRCA-like hereditary breast cancer genes is nearly over.

Foulkes WD, Polak P.

Ann Oncol. 2019 Jul 1;30(7):1023-1025. doi: 10.1093/annonc/mdz152. No abstract available.

PMID:
31090898
16.

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

Apellaniz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD.

N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169.

PMID:
31067372
17.

Case 35-2018: A Woman with Back Pain and a Remote History of Breast Cancer.

Foulkes WD, Witkowski L.

N Engl J Med. 2019 Apr 11;380(15):e22. doi: 10.1056/NEJMc1817336. No abstract available.

PMID:
30970201
18.

An update on the central nervous system manifestations of DICER1 syndrome.

de Kock L, Priest JR, Foulkes WD, Alexandrescu S.

Acta Neuropathol. 2019 Apr 5. doi: 10.1007/s00401-019-01997-y. [Epub ahead of print] Review.

PMID:
30953130
19.

The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type.

Pejovic T, McCluggage WG, Krieg AJ, Xu F, Lee DM, Witkowski L, Foulkes WD.

Gynecol Oncol Rep. 2019 Feb 17;28:47-49. doi: 10.1016/j.gore.2019.02.002. eCollection 2019 May.

20.

SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors.

Shorstova T, Marques M, Su J, Johnston J, Kleinman CL, Hamel N, Huang S, Alaoui-Jamali MA, Foulkes WD, Witcher M.

Cancer Res. 2019 May 15;79(10):2761-2774. doi: 10.1158/0008-5472.CAN-18-1545. Epub 2019 Mar 15.

PMID:
30877105
21.

Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.

Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group.

Breast Cancer Res Treat. 2019 Jun;175(2):443-449. doi: 10.1007/s10549-019-05162-7. Epub 2019 Feb 12.

PMID:
30756284
22.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.

Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.

PMID:
30753826
23.

Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.

Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.

Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.

PMID:
30723304
24.

CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary.

Xue Y, Meehan B, Macdonald E, Venneti S, Wang XQD, Witkowski L, Jelinic P, Kong T, Martinez D, Morin G, Firlit M, Abedini A, Johnson RM, Cencic R, Patibandla J, Chen H, Papadakis AI, Auguste A, de Rink I, Kerkhoven RM, Bertos N, Gotlieb WH, Clarke BA, Leary A, Witcher M, Guiot MC, Pelletier J, Dostie J, Park M, Judkins AR, Hass R, Levine DA, Rak J, Vanderhyden B, Foulkes WD, Huang S.

Nat Commun. 2019 Feb 4;10(1):558. doi: 10.1038/s41467-018-06958-9.

25.

SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer.

Xue Y, Meehan B, Fu Z, Wang XQD, Fiset PO, Rieker R, Levins C, Kong T, Zhu X, Morin G, Skerritt L, Herpel E, Venneti S, Martinez D, Judkins AR, Jung S, Camilleri-Broet S, Gonzalez AV, Guiot MC, Lockwood WW, Spicer JD, Agaimy A, Pastor WA, Dostie J, Rak J, Foulkes WD, Huang S.

Nat Commun. 2019 Feb 4;10(1):557. doi: 10.1038/s41467-019-08380-1.

26.

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE.

J Clin Oncol. 2019 Feb 20;37(6):461-470. doi: 10.1200/JCO.18.00474. Epub 2019 Jan 4.

PMID:
30608896
27.

Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.

de Kock L, Hillmer M, Wagener R, Soglio DB, Sabbaghian N, Siebert R, Priest JR, Miller M, Foulkes WD.

Genes Chromosomes Cancer. 2019 Aug;58(8):602-604. doi: 10.1002/gcc.22728. Epub 2019 Jan 28. No abstract available.

PMID:
30597651
28.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.

PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

29.

Loss of human ICOSL results in combined immunodeficiency.

Roussel L, Landekic M, Golizeh M, Gavino C, Zhong MC, Chen J, Faubert D, Blanchet-Cohen A, Dansereau L, Parent MA, Marin S, Luo J, Le C, Ford BR, Langelier M, King IL, Divangahi M, Foulkes WD, Veillette A, Vinh DC.

J Exp Med. 2018 Dec 3;215(12):3151-3164. doi: 10.1084/jem.20180668.

30.

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8.

PMID:
30429576
31.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Erratum in: Nat Genet. 2018 Nov 14;:.

PMID:
30374066
32.

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.

Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.

Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.

PMID:
30362666
33.

Expanding the morphological spectrum of ovarian microcystic stromal tumour.

McCluggage WG, Chong AS, Attygalle AD, Clarke BA, Chapman W, Rivera B, Foulkes WD.

Histopathology. 2019 Feb;74(3):443-451. doi: 10.1111/his.13755. Epub 2018 Dec 5.

PMID:
30325056
34.

Ovarian small cell carcinoma in one of a pair of monozygous twins.

Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.

Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.

PMID:
30284660
35.

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.

van der Tuin K, de Kock L, Kamping EJ, Hannema SE, Pouwels MM, Niedziela M, van Wezel T, Hes FJ, Jongmans MC, Foulkes WD, Morreau H.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):277-284. doi: 10.1210/jc.2018-00774.

PMID:
30260442
36.

Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.

Goudie C, Cullinan N, Villani A, Mathews N, van Engelen K, Malkin D, Irwin MS, Foulkes WD.

Pediatr Blood Cancer. 2018 Dec;65(12):e27390. doi: 10.1002/pbc.27390. Epub 2018 Aug 16.

PMID:
30117275
37.

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents.

Goudie C, Hannah-Shmouni F, Kavak M, Stratakis CA, Foulkes WD.

Endocr Relat Cancer. 2018 Aug;25(8):T221-T244. doi: 10.1530/ERC-18-0160. Review.

PMID:
29986924
38.

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms.

Foulkes WD, Bertherat J, Eng C.

Endocr Relat Cancer. 2018 Aug;25(8):E5-E7. doi: 10.1530/ERC-18-0283. No abstract available.

PMID:
29980642
39.

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

Chong AS, Fahiminiya S, Strother D, Priest J, Albrecht S, Rivera B, Foulkes WD.

Pediatr Blood Cancer. 2018 Oct;65(10):e27294. doi: 10.1002/pbc.27294. Epub 2018 Jun 26. No abstract available.

PMID:
29943907
40.

Infantile Pulmonary Teratoid Tumor.

de Kock L, Fahiminiya S, Fiset PO, Astigarraga I, Nguyen VH, Albrecht S, Foulkes WD.

N Engl J Med. 2018 Jun 7;378(23):2238-2240. doi: 10.1056/NEJMc1803354. No abstract available.

PMID:
29874541
41.

Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation.

Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA; Hereditary Ovarian Cancer Clinical Study Group.

Gynecol Oncol. 2018 Jul;150(1):85-91. doi: 10.1016/j.ygyno.2018.05.011. Epub 2018 May 21.

PMID:
29793803
42.

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Kotsopoulos J, Gronwald J, Lynch HT, Eisen A, Neuhausen SL, Tung N, Ainsworth P, Weitzel JN, Pal T, Foulkes WD, Eng C, Singer CF, Senter L, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.

Breast Cancer Res Treat. 2018 Sep;171(2):421-426. doi: 10.1007/s10549-018-4822-y. Epub 2018 May 17.

PMID:
29774471
43.

Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.

Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.

JAMA Oncol. 2018 Aug 1;4(8):1059-1065. doi: 10.1001/jamaoncol.2018.0211. Erratum in: JAMA Oncol. 2018 Aug 1;4(8):1139.

44.

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

Bah I, Fahiminiya S, Bégin LR, Hamel N, D'Agostino MD, Tanguay S, Foulkes WD.

J Pathol Clin Res. 2018 Jul;4(3):167-174. doi: 10.1002/cjp2.104. Epub 2018 Jun 13.

45.

A novel DICER1 mutation in familial multinodular goitre.

Caimari F, Kumar AV, Kurzawinski T, Butler G, Sabbaghian N, Foulkes WD, Korbonits M.

Clin Endocrinol (Oxf). 2018 Jul;89(1):110-112. doi: 10.1111/cen.13613. Epub 2018 May 4. No abstract available.

PMID:
29633305
46.

GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia.

Vinh DC, Palma L, Storring J, Foulkes WD.

J Pediatr Hematol Oncol. 2018 May;40(4):e225-e228. doi: 10.1097/MPH.0000000000001136. Review.

PMID:
29620682
47.

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Bouron-Dal Soglio D, de Kock L, Gauci R, Sabbaghian N, Thomas E, Atkinson HC, Pachter N, Ryan S, Walsh JP, Kumarasinghe MP, Carpenter K, Aydoğan A, Stewart CJR, Foulkes WD, Choong CS.

Eur Thyroid J. 2018 Jan;7(1):44-50. doi: 10.1159/000481620. Epub 2017 Nov 21.

48.

Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers.

Kim SJ, Huzarski T, Gronwald J, Singer CF, Møller P, Lynch HT, Armel S, Karlan BY, Foulkes WD, Neuhausen SL, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod SA, Kotsopoulos J; Hereditary Breast Cancer Clinical Study Group.

Int J Epidemiol. 2018 Mar 13. doi: 10.1093/ije/dyy039. [Epub ahead of print]

49.

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W, Lam J, Taylor L, Salinas M, Feliubadaló L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Cook J, Rosario DJ, Buys SS, Conner T, Domchek S, Powers J, Ausems MGEM, Teixeira MR, Maia S, Izatt L, Schmutzler R, Rhiem K, Foulkes WD, Boshari T, Davidson R, Ruijs M, Helderman-van den Enden ATJM, Andrews L, Walker L, Snape K, Henderson A, Jobson I, Lindeman GJ, Liljegren A, Harris M, Adank MA, Kirk J, Taylor A, Susman R, Chen-Shtoyerman R, Pachter N, Spigelman A, Side L, Zgajnar J, Mora J, Brewer C, Gadea N, Brady AF, Gallagher D, van Os T, Donaldson A, Stefansdottir V, Barwell J, James PA, Murphy D, Friedman E, Nicolai N, Greenhalgh L, Obeid E, Murthy V, Copakova L, McGrath J, Teo SH, Strom S, Kast K, Leongamornlert DA, Chamberlain A, Pope J, Newlin AC, Aaronson N, Ardern-Jones A, Bangma C, Castro E, Dearnaley D, Eyfjord J, Falconer A, Foster CS, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Lubinski J, Grindedal EM, McKinley J, Shackleton K, Mitra AV, Moynihan C, Rennert G, Suri M, Tricker K; IMPACT study collaborators, Moss S, Kote-Jarai Z, Vickers A, Lilja H, Helfand BT, Eeles RA.

Br J Cancer. 2018 Mar 20;118(6):e17. doi: 10.1038/bjc.2018.11. Epub 2018 Mar 6.

50.

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC; BIC Steering Committee.

NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018.

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