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Items: 25

1.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

2.

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

Evans DG, Woodward E, Harkness EF, Howell A, Plaskocinska I, Maher ER, Tischkowitz MD, Lalloo F.

J Med Genet. 2018 Jul;55(7):442-448. doi: 10.1136/jmedgenet-2017-105223. Epub 2018 Feb 26.

PMID:
29483236
3.

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER.

JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. Review.

PMID:
26659639
4.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD.

J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17.

PMID:
25691505
5.

Opportunities and challenges of next-generation DNA sequencing for breast units.

Pilgrim SM, Pain SJ, Tischkowitz MD.

Br J Surg. 2014 Jul;101(8):889-98. doi: 10.1002/bjs.9458. Epub 2014 Mar 27. Review.

PMID:
24676784
6.

Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD.

J Pathol. 2013 Sep;231(1):35-43. doi: 10.1002/path.4225.

PMID:
23775540
7.

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Sabbaghian N, Bahubeshi A, Shuen AY, Kanetsky PA, Tischkowitz MD, Nathanson KL, Foulkes WD.

BMC Res Notes. 2013 Apr 1;6:127. doi: 10.1186/1756-0500-6-127.

8.

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.

Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.

9.

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.

Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.

10.

Extending the phenotypes associated with DICER1 mutations.

Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR.

Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11.

PMID:
21882293
11.

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD.

N Engl J Med. 2010 Dec 30;363(27):2628-37. doi: 10.1056/NEJMoa1006565.

12.

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, Srivastava A, Holter S, Rothenmund H, Ghadirian P, Foulkes WD, Gallinger S.

Gastroenterology. 2009 Sep;137(3):1183-6. doi: 10.1053/j.gastro.2009.06.055. Epub 2009 Jul 25. No abstract available.

13.

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Campeau PM, Foulkes WD, Tischkowitz MD.

Hum Genet. 2008 Aug;124(1):31-42. doi: 10.1007/s00439-008-0529-1. Epub 2008 Jun 25. Review.

PMID:
18575892
14.

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.

Tischkowitz MD, Yilmaz A, Chen LQ, Karyadi DM, Novak D, Kirchhoff T, Hamel N, Tavtigian SV, Kolb S, Bismar TA, Aloyz R, Nelson PS, Hood L, Narod SA, White KA, Ostrander EA, Isaacs WB, Offit K, Cooney KA, Stanford JL, Foulkes WD.

Cancer Lett. 2008 Oct 18;270(1):173-80. doi: 10.1016/j.canlet.2008.05.006. Epub 2008 Jun 20.

15.

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB.

Am J Med Genet A. 2006 Nov 15;140(22):2416-25.

PMID:
17036343
16.

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA.

Clin Dysmorphol. 2006 Jul;15(3):127-32.

PMID:
16760729
17.

The basal phenotype of BRCA1-related breast cancer: past, present and future.

Tischkowitz MD, Foulkes WD.

Cell Cycle. 2006 May;5(9):963-7. Epub 2006 May 1. Review.

PMID:
16687925
18.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J.

Blood. 2005 Mar 1;105(5):1946-9. Epub 2004 Nov 2. Erratum in: Blood. 2005 May 1;105(9):3404.

PMID:
15522956
19.

Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.

Callén E, Tischkowitz MD, Creus A, Marcos R, Bueren JA, Casado JA, Mathew CG, Surrallés J.

Cytogenet Genome Res. 2004;104(1-4):341-5.

PMID:
15162062
20.

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.

Tischkowitz MD, Morgan NV, Grimwade D, Eddy C, Ball S, Vorechovsky I, Langabeer S, Stöger R, Hodgson SV, Mathew CG.

Leukemia. 2004 Mar;18(3):420-5.

PMID:
14749703
21.

Medulloblastoma as a first presentation of fanconi anemia.

Tischkowitz MD, Chisholm J, Gaze M, Michalski A, Rosser EM.

J Pediatr Hematol Oncol. 2004 Jan;26(1):52-5. Review.

PMID:
14707715
22.

Fanconi anaemia.

Tischkowitz MD, Hodgson SV.

J Med Genet. 2003 Jan;40(1):1-10. Review.

23.

19. Male breast cancer: aetiology, genetics and clinical management.

Tischkowitz MD, Hodgson SV, Fentiman IS.

Int J Clin Pract. 2002 Dec;56(10):750-4. Review.

PMID:
12510948
24.

Phase II trial of liposomal daunorubicin in malignant pleural mesothelioma.

Steele JP, O'Doherty CA, Shamash J, Evans MT, Gower NH, Tischkowitz MD, Rudd RM.

Ann Oncol. 2001 Apr;12(4):497-9.

25.

Phase II study of vinorelbine in patients with malignant pleural mesothelioma.

Steele JP, Shamash J, Evans MT, Gower NH, Tischkowitz MD, Rudd RM.

J Clin Oncol. 2000 Dec 1;18(23):3912-7.

PMID:
11099320

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