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Results: 1 to 20 of 87

1.

Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.

Dowty JG, Lee E, McKean-Cowdin R, Henderson BE, Bernstein L, Ursin G, Hopper JL.

Breast Cancer Res Treat. 2014 Feb;144(1):171-7. doi: 10.1007/s10549-014-2845-6. Epub 2014 Jan 31.

PMID:
24481681
[PubMed - in process]
2.

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E, McKean-Cowdin R, Ma H, Chen Z, Van Den Berg D, Henderson BE, Bernstein L, Ursin G.

Breast Cancer Res. 2008;10(1):R19. doi: 10.1186/bcr1865. Epub 2008 Feb 19.

PMID:
18284688
[PubMed - indexed for MEDLINE]
Free PMC Article
3.
4.

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA.

Am J Hum Genet. 2001 Mar;68(3):700-10. Epub 2001 Feb 15.

PMID:
11179017
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PMID:
22684231
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

Akbari MR, Zhang S, Fan I, Royer R, Li S, Risch H, McLaughlin J, Rosen B, Sun P, Narod SA.

J Med Genet. 2011 Nov;48(11):783-6. doi: 10.1136/jmedgenet-2011-100305. Epub 2011 Oct 1.

PMID:
21965345
[PubMed - indexed for MEDLINE]
7.

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PMID:
17924331
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PMID:
23704879
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF.

Am J Hum Genet. 2003 May;72(5):1117-30. Epub 2003 Apr 3. Erratum in: Am J Hum Genet. 2003 Sep;73(3):709.

PMID:
12677558
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A.

J Med Genet. 2006 Apr;43(4):295-305. Epub 2005 Jul 13.

PMID:
16014699
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.

Kuo WH, Lin PH, Huang AC, Chien YH, Liu TP, Lu YS, Bai LY, Sargeant AM, Lin CH, Cheng AL, Hsieh FJ, Hwu WL, Chang KJ.

J Hum Genet. 2012 Feb;57(2):130-8. doi: 10.1038/jhg.2011.142. Epub 2012 Jan 26.

PMID:
22277901
[PubMed - indexed for MEDLINE]
12.

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL, Jenkins MA, Southey MC, Davis TA, Leary JA, Easton DF, Phillips KA, Hopper JL.

Hum Genet. 2003 May;112(5-6):542-51. Epub 2003 Feb 25.

PMID:
12601471
[PubMed - indexed for MEDLINE]
14.

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

PMID:
18824701
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
16.

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PMID:
23867111
[PubMed - indexed for MEDLINE]
17.

The Clinical Significance of Unknown Sequence Variants in BRCA Genes.

Calò V, Bruno L, Paglia LL, Perez M, Margarese N, Gaudio FD, Russo A.

Cancers (Basel). 2010 Sep 10;2(3):1644-60. doi: 10.3390/cancers2031644.

PMID:
24281179
[PubMed]
Free PMC Article
18.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

PMID:
21356067
[PubMed - indexed for MEDLINE]
Free PMC Article
19.
20.

Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.

Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ.

Cancer Epidemiol Biomarkers Prev. 1999 Sep;8(9):741-7.

PMID:
10498392
[PubMed - indexed for MEDLINE]
Free Article

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