Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene-Reference-Cited by-同舟云学术

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene

Published:2012-01-08 Issue:2 Volume:133 Page:725-734
ISSN:0167-6806
Container-title:Breast Cancer Research and Treatment
language:en
Short-container-title:Breast Cancer Res Treat

Author:

Rath Michelle G.,Fathali-Zadeh Farnoosh,Langheinz Anne,Tchatchou Sandrine,Voigtländer Theda,Heil Jörg,Golatta Michael,Schott Sarah,Drasseck Teresa,Behnecke Anne,Burgemeister Anna-Lena,Evers Christina,Bugert Peter,Junkermann Hans,Schneeweiss Andreas,Bartram Claus R.,Sohn Christof,Sutter Christian,Burwinkel Barbara

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

Link

http://link.springer.com/content/pdf/10.1007/s10549-011-1917-0.pdf

Reference50 articles.

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2. 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, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) 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. Am J Hum Genet 72:1117–1130. doi: 10.1086/375033

3. Arnold N, Peper H, Bandick K, Kreikemeier M, Karow D, Teegen B, Jonat W (2002) Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography. J Chromatogr B 782:99–104

4. Billack B, Monteiro AN (2004) Methods to classify BRCA1 variants of uncertain clinical significance: the more the merrier. Cancer Biol Ther 3:458–459

5. Biswas K, Das R, Alter BP, Kuznetsov SG, Stauffer S, North SL, Burkett S, Brody LC, Meyer S, Byrd RA, Sharan SK (2011) A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. Blood 118:2430–2442. doi: 10.1182/blood-2010-12-324541

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1. Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance;Breast Cancer Research and Treatment;2014-04-12