IARC Unclassified Genetic Variants Working Group[Corporate Author] - Search Results

1

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.

Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P; IARC Unclassified Genetic Variants Working Group. Tavtigian SV, et al. Hum Mutat. 2008 Nov;29(11):1261-4. doi: 10.1002/humu.20903. Hum Mutat. 2008. PMID: 18951436 Free PMC article. No abstract available.

2

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group. Plon SE, et al. Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. Hum Mutat. 2008. PMID: 18951446 Free PMC article.

3

Assessment of functional effects of unclassified genetic variants.

Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group. Couch FJ, et al. Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899. Hum Mutat. 2008. PMID: 18951449 Free PMC article.

4

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group. Greenblatt MS, et al. Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889. Hum Mutat. 2008. PMID: 18951438 Free PMC article.

5

Prediction and assessment of splicing alterations: implications for clinical testing.

Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM; IARC Unclassified Genetic Variants Working Group. Spurdle AB, et al. Hum Mutat. 2008 Nov;29(11):1304-13. doi: 10.1002/humu.20901. Hum Mutat. 2008. PMID: 18951448 Free PMC article.

6

In silico analysis of missense substitutions using sequence-alignment based methods.

Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB; IARC Unclassified Genetic Variants Working Group. Tavtigian SV, et al. Hum Mutat. 2008 Nov;29(11):1327-36. doi: 10.1002/humu.20892. Hum Mutat. 2008. PMID: 18951440 Free PMC article.

7

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS; IARC Unclassified Genetic Variants Working Group. Goldgar DE, et al. Hum Mutat. 2008 Nov;29(11):1265-72. doi: 10.1002/humu.20897. Hum Mutat. 2008. PMID: 18951437 Free PMC article.

8

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

Hofstra RM, Spurdle AB, Eccles D, Foulkes WD, de Wind N, Hoogerbrugge N, Hogervorst FB; IARC Unclassified Genetic Variants Working Group. Hofstra RM, et al. Hum Mutat. 2008 Nov;29(11):1292-303. doi: 10.1002/humu.20894. Hum Mutat. 2008. PMID: 18951447 Free PMC article.

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