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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators.

Cancer Res. 2006 Feb 15;66(4):2019-27.


Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators.

J Clin Oncol. 2008 Apr 1;26(10):1657-63. doi: 10.1200/JCO.2007.13.2779.


Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

Osorio A, Milne RL, Honrado E, Barroso A, Diez O, Salazar R, de la Hoya M, Vega A, Benítez J.

Hum Mutat. 2007 May;28(5):477-85.


Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals--correlation with clinicopathological data.

Kataki A, Gomatos I, Pararas N, Armakolas A, Panousopoulos D, Karantzikos G, Voros D, Zografos G, Markopoulos C, Leandros E, Konstadoulakis M.

Clin Genet. 2005 Apr;67(4):322-9.


BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Seo JH, Cho DY, Ahn SH, Yoon KS, Kang CS, Cho HM, Lee HS, Choe JJ, Choi CW, Kim BS, Shin SW, Kim YH, Kim JS, Son GS, Lee JB, Koo BH.

Hum Mutat. 2004 Oct;24(4):350.


Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee.

Am J Hum Genet. 2004 Oct;75(4):535-44. Epub 2004 Aug 2.


Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.

Maillet P, Chappuis PO, Khoshbeen-Boudal M, Sciretta V, Sappino AP; SIAK Network for Cancer Predisposition Testing and Counseling.

Cancer Genet Cytogenet. 2006 Aug;169(1):62-8.


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.


RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B, Díez O, Domènech M, Baena M, Balmaña J, Sanz J, Ramírez A, Alonso C, Baiget M.

Hum Mutat. 2003 Oct;22(4):337.


Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family.

Kwong A, Wong LP, Chan KY, Ma ES, Khoo US, Ford JM.

Fam Cancer. 2008;7(2):125-33. Epub 2007 Jul 27.


BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

Capalbo C, Ricevuto E, Vestri A, Ristori E, Sidoni T, Buffone O, Adamo B, Cortesi E, Marchetti P, Scambia G, Tomao S, Rinaldi C, Zani M, Ferraro S, Frati L, Screpanti I, Gulino A, Giannini G.

Ann Oncol. 2006 Jun;17 Suppl 7:vii34-40.


Novel somatic mutations in the BRCA1 gene in sporadic breast tumors.

Janatova M, Zikan M, Dundr P, Matous B, Pohlreich P.

Hum Mutat. 2005 Mar;25(3):319.


Molecular and in silico analysis of BRCA1 and BRCA2 variants.

Tommasi S, Pilato B, Pinto R, Monaco A, Bruno M, Campana M, Digennaro M, Schittulli F, Lacalamita R, Paradiso A.

Mutat Res. 2008 Sep 26;644(1-2):64-70. doi: 10.1016/j.mrfmmm.2008.07.005. Epub 2008 Jul 18.


Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.

Lose F, Duffy DL, Kay GF, Kedda MA, Spurdle AB; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Australian Ovarian Cancer Study Management Group.

J Natl Cancer Inst. 2008 Nov 5;100(21):1519-29. doi: 10.1093/jnci/djn345. Epub 2008 Oct 28.


BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

Zhi X, Szabo C, Chopin S, Suter N, Wang QS, Ostrander EA, Sinilnikova OM, Lenoir GM, Goldgar D, Shi YR.

Hum Mutat. 2002 Dec;20(6):474.


RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.


G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, Fountzilas G, Yannoukakos D.

Breast Cancer Res Treat. 2008 Jul;110(2):377-85. Epub 2007 Sep 28.


Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.

Wappenschmidt B, Fimmers R, Rhiem K, Brosig M, Wardelmann E, Meindl A, Arnold N, Mallmann P, Schmutzler RK.

Breast Cancer Res. 2005;7(5):R775-9. Epub 2005 Jul 27.


Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

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