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Items: 1 to 20 of 43

1.

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Westdorp H, Kolders S, Hoogerbrugge N, de Vries IJM, Jongmans MCJ, Schreibelt G.

Cancer Lett. 2017 Sep 10;403:159-164. doi: 10.1016/j.canlet.2017.06.018. Epub 2017 Jun 20. Review.

2.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP.

Clin Cancer Res. 2017 Jun 15;23(12):e83-e90. doi: 10.1158/1078-0432.CCR-17-0631. Review.

PMID:
28620009
3.

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, Brugières L.

Clin Cancer Res. 2017 Jun 1;23(11):e32-e37. doi: 10.1158/1078-0432.CCR-17-0574. Review.

PMID:
28572265
4.

Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency.

Bourdais R, Rousseau B, Pujals A, Boussion H, Joly C, Guillemin A, Baumgaertner I, Neuzillet C, Tournigand C.

Crit Rev Oncol Hematol. 2017 May;113:242-248. doi: 10.1016/j.critrevonc.2017.03.027. Epub 2017 Mar 23. Review.

PMID:
28427513
5.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.

Durno C, Boland CR, Cohen S, Dominitz JA, Giardiello FM, Johnson DA, Kaltenbach T, Levin TR, Lieberman D, Robertson DJ, Rex DK.

Gastroenterology. 2017 May;152(6):1605-1614. doi: 10.1053/j.gastro.2017.02.011. Epub 2017 Mar 28. Review.

PMID:
28363489
6.

Immunotherapy and patients treated for cancer with microsatellite instability.

Colle R, Cohen R, Cochereau D, Duval A, Lascols O, Lopez-Trabada D, Afchain P, Trouilloud I, Parc Y, Lefevre JH, Fléjou JF, Svrcek M, André T.

Bull Cancer. 2017 Jan;104(1):42-51. doi: 10.1016/j.bulcan.2016.11.006. Epub 2016 Dec 13. Review.

PMID:
27979364
7.

Genetic Syndromes Associated with Central Nervous System Tumors.

Vijapura C, Saad Aldin E, Capizzano AA, Policeni B, Sato Y, Moritani T.

Radiographics. 2017 Jan-Feb;37(1):258-280. doi: 10.1148/rg.2017160057. Epub 2016 Dec 2. Review.

PMID:
27911673
8.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Wimmer K, Rosenbaum T, Messiaen L.

Clin Genet. 2017 Apr;91(4):507-519. doi: 10.1111/cge.12904. Epub 2017 Jan 10. Review.

PMID:
27779754
9.

Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

Buecher B.

Bull Cancer. 2016 Feb;103(2):199-209. doi: 10.1016/j.bulcan.2015.10.019. Epub 2016 Jan 19. Review.

PMID:
26805944
10.

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

Ripperger T, Schlegelberger B.

Eur J Med Genet. 2016 Mar;59(3):133-42. doi: 10.1016/j.ejmg.2015.12.014. Epub 2015 Dec 30. Review.

PMID:
26743104
11.

Recent developments in brain tumor predisposing syndromes.

Johansson G, Andersson U, Melin B.

Acta Oncol. 2016;55(4):401-11. doi: 10.3109/0284186X.2015.1107190. Epub 2015 Dec 3. Review.

PMID:
26634384
12.

MMR deficiency may lead to a high immunogenicity and then an improvement in anti-PD-1 efficacy for metastatic colorectal cancer.

Aguiar PN Jr, Tadokoro H, Forones NM, de Mello RA.

Immunotherapy. 2015;7(11):1133-4. doi: 10.2217/imt.15.84. Epub 2015 Nov 16. Review. No abstract available.

PMID:
26568256
13.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L.

J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. Review.

PMID:
26318770
14.

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

Carethers JM, Stoffel EM.

World J Gastroenterol. 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. Review.

15.

Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.

Ponti G, Manfredini M, Tomasi A, Pellacani G.

Gene. 2016 Sep 10;589(2):127-32. doi: 10.1016/j.gene.2015.06.078. Epub 2015 Jul 2. Review.

PMID:
26143115
16.

Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.

Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U; International BMMRD Consortium.

Eur J Cancer. 2015 May;51(8):977-83. doi: 10.1016/j.ejca.2015.02.008. Epub 2015 Apr 13. Review.

PMID:
25883011
17.

[Molecular genetics of familial tumour syndromes of the central nervous system].

Murnyák B, Szepesi R, Hortobágyi T.

Orv Hetil. 2015 Feb 1;156(5):171-7. doi: 10.1556/OH.2015.30092. Review. Hungarian.

PMID:
25618858
18.

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD).

J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15. Review.

PMID:
24737826
19.

[Turcot syndrome. Rare observation and literature review].

Ozerov SS, Zakharov IV, Talypov SR, Konovalov DM, Kisliakov AN, Kachanov DIu, Zheludkova OG, Varfolomeeva SR, Rachkov VE.

Zh Vopr Neirokhir Im N N Burdenko. 2013;77(3):49-53; discussion 53. Review. English, Russian.

20.

Tumors of central and peripheral nervous system associated with inherited genetic syndromes.

Stefanaki K, Alexiou GA, Stefanaki C, Prodromou N.

Pediatr Neurosurg. 2012;48(5):271-85. doi: 10.1159/000351546. Epub 2013 Jun 18. Review.

PMID:
23796843

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