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Items: 1 to 20 of 61

1.

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.

Hum Mutat. 2012 Dec;33(12):1617-25. doi: 10.1002/humu.22168. Epub 2012 Aug 13. Review.

PMID:
22833534
2.

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R.

Fam Cancer. 2011 Sep;10(3):515-20. doi: 10.1007/s10689-011-9436-z.

PMID:
21431882
3.

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD, Juel Rasmussen L.

Hered Cancer Clin Pract. 2012 Jul 23;10(1):9. doi: 10.1186/1897-4287-10-9.

4.

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Drost M, Zonneveld JB, van Hees S, Rasmussen LJ, Hofstra RM, de Wind N.

Hum Mutat. 2012 Mar;33(3):488-94. doi: 10.1002/humu.22000. Epub 2011 Dec 29.

PMID:
22102614
5.

Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Drost M, Koppejan H, de Wind N.

Hum Mutat. 2013 Nov;34(11):1477-80. doi: 10.1002/humu.22426. Epub 2013 Sep 11.

6.

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Drost M, Lützen A, van Hees S, Ferreira D, Calléja F, Zonneveld JB, Nielsen FC, Rasmussen LJ, de Wind N.

Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9403-8. doi: 10.1073/pnas.1220537110. Epub 2013 May 20.

7.

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7.

8.

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H, Olatubosun A, Vihinen M.

Hum Mutat. 2012 Apr;33(4):642-50. doi: 10.1002/humu.22038.

PMID:
22290698
9.

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Sijmons RH, Greenblatt MS, Genuardi M.

Fam Cancer. 2013 Jun;12(2):181-7. doi: 10.1007/s10689-013-9629-8.

PMID:
23525798
10.

A new variant database for mismatch repair genes associated with Lynch syndrome.

Woods MO, Williams P, Careen A, Edwards L, Bartlett S, McLaughlin JR, Younghusband HB.

Hum Mutat. 2007 Jul;28(7):669-73.

PMID:
17347989
11.

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno MJ, Menko FH, Mensenkamp AR, Spaander MCW, Wagner A, Hofstra RMW, Te Riele H.

PLoS Genet. 2017 May 22;13(5):e1006765. doi: 10.1371/journal.pgen.1006765. eCollection 2017 May.

12.

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

Liu Q, Thompson BA, Ward RL, Hesson LB, Sloane MA.

Hum Mutat. 2016 May;37(5):417-26. doi: 10.1002/humu.22971. Epub 2016 Mar 18. Review.

PMID:
26888055
13.

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nyström-Lahti M.

Hum Genet. 2003 Feb;112(2):105-9. Epub 2002 Nov 21.

PMID:
12522549
14.

Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.

Niessen RC, Sijmons RH, Berends MJ, Ou J, Hofstra RM, Kleibeuker JH.

Scand J Gastroenterol Suppl. 2004;(241):70-7. Review.

PMID:
15696853
15.

Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.

Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; Dutch Cancer Genetics Group, Schumacher J, Nöthen MM, Propping P.

Fam Cancer. 2012 Mar;11(1):19-26. doi: 10.1007/s10689-011-9489-z.

PMID:
22086303
16.

Prediction of Lynch syndrome in consecutive patients with colorectal cancer.

Green RC, Parfrey PS, Woods MO, Younghusband HB.

J Natl Cancer Inst. 2009 Mar 4;101(5):331-40. doi: 10.1093/jnci/djn499. Epub 2009 Feb 24.

PMID:
19244167
17.

Mismatch repair genes in Lynch syndrome: a review.

Silva FC, Valentin MD, Ferreira Fde O, Carraro DM, Rossi BM.

Sao Paulo Med J. 2009 Jan;127(1):46-51. Review.

18.

Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.

Schofield L, Goldblatt J, Iacopetta B.

Rural Remote Health. 2011;11(4):1836. Epub 2011 Dec 22.

19.

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Martinez SL, Kolodner RD.

Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5070-5. doi: 10.1073/pnas.1000798107. Epub 2010 Feb 22.

20.

The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome.

Martín-López JV, Fishel R.

Fam Cancer. 2013 Jun;12(2):159-68. doi: 10.1007/s10689-013-9635-x. Review.

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