Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?-Reference-Cited by-同舟云学术

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Published:2007-11-26 Issue:6 Volume:9 Page:
ISSN:1465-542X
Container-title:Breast Cancer Research
language:en
Short-container-title:Breast Cancer Res

Author:

Lovelock Paul K,Spurdle Amanda B,Mok Myth TS,Farrugia Daniel J,Lakhani Sunil R,Healey Sue,Arnold Stephen,Buchanan Daniel,Investigators kConFab,Couch Fergus J,Henderson Beric R,Goldgar David E,Tavtigian Sean V,Chenevix-Trench Georgia,Brown Melissa A

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/article/10.1186/bcr1826/fulltext.html

Reference35 articles.

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2. Deffenbaugh AM, Frank TS, Hoffman M, Cannon-Albright L, Neuhausen SL: Characterization of common BRCA1 and BRCA2 variants. Genet Test. 2002, 6: 119-121. 10.1089/10906570260199375.

3. Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, et al: Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet. 2006, 43: 74-83. 10.1136/jmg.2005.033258.

4. Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ: Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet. 2004, 75: 535-544. 10.1086/424388.

5. Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, et al: Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res. 2006, 66: 2019-2027. 10.1158/0008-5472.CAN-05-3546.

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