Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 109

1.

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.

Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE.

Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2.

PMID:
25050558
[PubMed - in process]
2.

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.

Breast Cancer Res. 2014 Jun 3;16(3):R58. [Epub ahead of print]

PMID:
24894818
[PubMed - as supplied by publisher]
3.

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD.

Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18.

PMID:
24837662
[PubMed - in process]
4.

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Tavtigian SV, Chenevix-Trench G.

Biomark Med. 2014 Apr;8(4):589-603. doi: 10.2217/bmm.13.143.

PMID:
24796624
[PubMed - in process]
5.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT.

Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

PMID:
24362816
[PubMed - indexed for MEDLINE]
6.

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ.

Oncologist. 2013;18(5):518-24. doi: 10.1634/theoncologist.2012-0452. Epub 2013 Apr 24.

PMID:
23615697
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.

Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ.

BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65.

PMID:
23441864
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.

Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F.

PLoS One. 2012;7(12):e52374. doi: 10.1371/journal.pone.0052374. Epub 2012 Dec 27.

PMID:
23300655
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22.

PMID:
22949387
[PubMed - indexed for MEDLINE]
10.

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry, Young JP, Buchanan DD, Tavtigian SV, Spurdle AB.

Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.

PMID:
22949379
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F.

Clin Genet. 2012 Dec;82(6):594-8. doi: 10.1111/j.1399-0004.2012.01869.x. Epub 2012 Apr 8. No abstract available.

PMID:
22486713
[PubMed - indexed for MEDLINE]
12.

Rare mutations in XRCC2 increase the risk of breast cancer.

Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.

Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29.

PMID:
22464251
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Rare germline mutations in PALB2 and breast cancer risk: a population-based study.

Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; WECARE Study Collaborative Group, Bernstein JL, Begg CB.

Hum Mutat. 2012 Apr;33(4):674-80. doi: 10.1002/humu.22022. Epub 2012 Feb 15.

PMID:
22241545
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV.

Hum Mutat. 2012 Jan;33(1):22-8. doi: 10.1002/humu.21629. Epub 2011 Nov 3.

PMID:
21990165
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Design considerations for massively parallel sequencing studies of complex human disease.

Feng BJ, Tavtigian SV, Southey MC, Goldgar DE.

PLoS One. 2011;6(8):e23221. doi: 10.1371/journal.pone.0023221. Epub 2011 Aug 5.

PMID:
21850262
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Comparison of programs for in silico assessment of missense substitutions.

Tavtigian SV.

Hum Mutat. 2011 Jun;32(6):v. doi: 10.1002/humu.21532. No abstract available.

PMID:
21618348
[PubMed - indexed for MEDLINE]
17.

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

Nguyen-Dumont T, Jordheim LP, Michelon J, Forey N, McKay-Chopin S; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer, Sinilnikova O, Le Calvez-Kelm F, Southey MC, Tavtigian SV, Lesueur F.

BMC Med Genomics. 2011 May 11;4:39. doi: 10.1186/1755-8794-4-39.

PMID:
21569354
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN.

Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1078-88. doi: 10.1158/1055-9965.EPI-10-1214. Epub 2011 Mar 29.

PMID:
21447777
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.

PMID:
21394826
[PubMed - indexed for MEDLINE]
20.

Tests of association for rare variants: case control mutation screening.

Tavtigian SV, Hashibe M, Thomas A.

Nat Rev Genet. 2011 Mar;12(3):224. doi: 10.1038/nrg2867-c1. Epub 2011 Feb 1. No abstract available.

PMID:
21283087
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk