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Items: 1 to 20 of 84

1.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S.

Am J Hum Genet. 2016 Aug 4;99(2):337-51. doi: 10.1016/j.ajhg.2016.06.015.

PMID:
27476653
2.

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Jansen AM, Geilenkirchen MA, van Wezel T, Jagmohan-Changur SC, Ruano D, van der Klift HM, van den Akker BE, Laros JF, van Galen M, Wagner A, Letteboer TG, Gómez-García EB, Tops CM, Vasen HF, Devilee P, Hes FJ, Morreau H, Wijnen JT.

PLoS One. 2016 Jun 14;11(6):e0157381. doi: 10.1371/journal.pone.0157381.

3.

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W, McPhillips M, Scott RJ, Talseth-Palmer BA.

Mol Genet Genomic Med. 2016 Jan 11;4(2):223-31. doi: 10.1002/mgg3.198.

4.

Opportunities for immunotherapy in microsatellite instable colorectal cancer.

Westdorp H, Fennemann FL, Weren RD, Bisseling TM, Ligtenberg MJ, Figdor CG, Schreibelt G, Hoogerbrugge N, Wimmers F, de Vries IJ.

Cancer Immunol Immunother. 2016 Oct;65(10):1249-59. doi: 10.1007/s00262-016-1832-7. Review.

5.

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

Mork ME, Borras E, Taggart MW, Cuddy A, Bannon SA, You YN, Lynch PM, Ramirez PT, Rodriguez-Bigas MA, Vilar E.

Fam Cancer. 2016 Oct;15(4):587-91. doi: 10.1007/s10689-016-9902-8.

PMID:
27017610
6.

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Rosty C, Clendenning M, Walsh MD, Eriksen SV, Southey MC, Winship IM, Macrae FA, Boussioutas A, Poplawski NK, Parry S, Arnold J, Young JP, Casey G, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Potter JD, DeRycke M, Lindor NM, Thibodeau SN, Baron JA, Win AK, Hopper JL, Jenkins MA, Buchanan DD; Colon Cancer Family Registry Cohort..

BMJ Open. 2016 Feb 19;6(2):e010293. doi: 10.1136/bmjopen-2015-010293.

7.

High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine.

Gatalica Z, Vranic S, Xiu J, Swensen J, Reddy S.

Fam Cancer. 2016 Jul;15(3):405-12. doi: 10.1007/s10689-016-9884-6.

8.

Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target.

Goyal G, Fan T, Silberstein PT.

Fam Cancer. 2016 Jul;15(3):359-66. doi: 10.1007/s10689-016-9883-7.

9.

Update on Lynch syndrome genomics.

Peltomäki P.

Fam Cancer. 2016 Jul;15(3):385-93. doi: 10.1007/s10689-016-9882-8.

10.

Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.

Kato A, Sato N, Sugawara T, Takahashi K, Kito M, Makino K, Sato T, Shimizu D, Shirasawa H, Miura H, Sato W, Kumazawa Y, Sato A, Kumagai J, Terada Y.

Am J Surg Pathol. 2016 Jun;40(6):770-6. doi: 10.1097/PAS.0000000000000606.

11.

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Win AK, Clendenning M, Crawford W, Rosty C, Preston SG, Southey MC, Parry S, Giles GG, Macrae FA, Winship IM, Baron JA, Hopper JL, Jenkins MA, Buchanan DD.

Genes Cancer. 2015 Nov;6(11-12):445-51. Review.

12.

UK BRCA mutation testing in patients with ovarian cancer.

George A.

Br J Cancer. 2015 Dec 15;113 Suppl 1:S17-21. doi: 10.1038/bjc.2015.396. Review.

PMID:
26669451
13.

PARP inhibitors in ovarian cancer.

Cibula D, Balmaña J.

Br J Cancer. 2015 Dec 15;113 Suppl 1:S1-2. doi: 10.1038/bjc.2015.392. No abstract available.

PMID:
26669449
14.

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Cheng TH, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, Palles C, Jones A, Buchanan DD, Ko Win A, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Giles GG, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Goode EL, Winham SJ, Lambrechts D, Fasching P, Burwinkel B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Darabi H, Li J, Liu T, Lindblom A, Hall P, de Polanco ME, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguiar Jnr S, Teixeira MR, Dunning AM, Dennis J, Otton G, Proietto T, Holliday E, Attia J, Ashton K, Scott RJ, McEvoy M, Dowdy SC, Fridley BL, Werner HM, Trovik J, Njolstad TS, Tham E, Mints M, Runnebaum I, Hillemanns P, Dörk T, Amant F, Schrauwen S, Hein A, Beckmann MW, Ekici A, Czene K, Meindl A, Bolla MK, Michailidou K, Tyrer JP, Wang Q, Ahmed S, Healey CS, Shah M, Annibali D, Depreeuw J, Al-Tassan NA, Harris R, Meyer BF, Whiffin N, Hosking FJ, Kinnersley B, Farrington SM, Timofeeva M, Tenesa A, Campbell H, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I.

Sci Rep. 2015 Dec 1;5:17369. doi: 10.1038/srep17369.

15.

Clinical guideline seom: hereditary colorectal cancer.

Guillén-Ponce C, Serrano R, Sánchez-Heras AB, Teulé A, Chirivella I, Martín T, Martínez E, Morales R, Robles L.

Clin Transl Oncol. 2015 Dec;17(12):962-71. doi: 10.1007/s12094-015-1439-z.

16.

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.

Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. Erratum in: Front Oncol. 2015;5:271.

17.

Genetic testing for Lynch syndrome: family communication and motivation.

Leenen CH, Heijer Md, van der Meer C, Kuipers EJ, van Leerdam ME, Wagner A.

Fam Cancer. 2016 Jan;15(1):63-73. doi: 10.1007/s10689-015-9842-8.

18.

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Win AK, Reece JC, Buchanan DD, Clendenning M, Young JP, Cleary SP, Kim H, Cotterchio M, Dowty JG, MacInnis RJ, Tucker KM, Winship IM, Macrae FA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Lindor NM, Hopper JL, Gallinger S, Jenkins MA.

Fam Cancer. 2015 Dec;14(4):575-83. doi: 10.1007/s10689-015-9824-x.

19.

Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

Wong A, Ngeow J.

Biomed Res Int. 2015;2015:219012. doi: 10.1155/2015/219012. Review.

20.

Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome.

Dashti SG, Chau R, Ouakrim DA, Buchanan DD, Clendenning M, Young JP, Winship IM, Arnold J, Ahnen DJ, Haile RW, Casey G, Gallinger S, Thibodeau SN, Lindor NM, Le Marchand L, Newcomb PA, Potter JD, Baron JA, Hopper JL, Jenkins MA, Win AK.

JAMA. 2015 Jul 7;314(1):61-71. doi: 10.1001/jama.2015.6789.

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