Functional assays for BRCA1 and BRCA2.

Functional assays for BRCA1 and BRCA2. Research Abstract Details 

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Functional assays for BRCA1 and BRCA2. Abstract Text:

Marcelo A Carvalho,Fergus J Couch,Alvaro N A Monteiro,

Genetic testing for the two major breast cancer susceptibility genes has now been available for several years with more than 70,000 people tested in the USA alone. While the current genetic testing identifies many sequence alterations there are problems with both sensitivity and specificity of the assay. In particular, the genetic testing is limited in its ability to determine which of the many missense mutations identified in BRCA1 and BRCA2 actually predispose to cancer and which are simply neutral alterations. Here we will focus on the limitations in test result interpretation and we will explore how biochemistry and cell biology can help to clarify these issues. Although we limit our discussion to genetic testing of BRCA1 and BRCA2, the problem is common to an expanding group of genes, including ATM and MSH2, in which germ-line missense mutations may also confer increased risk of cancer. Here we advocate the use of functional assays to complement genetic data in the analysis of unclassified missense mutations and propose a set of standards to conduct and interpret these assays.

Functional assays for BRCA1 and BRCA2. Publishing Authors By Initials

MA Carvalho,FJ Couch,AN Monteiro,

For similar investigative techniques: epidemiologic methods: statistics as topic: sensitivity and specificity research abstracts see: investigative techniques: epidemiologic methods: statistics as topic: sensitivity and specificity research

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Functional assays for BRCA1 and BRCA2. Journal Published:

PUBLICATION TYPE: Review

Journal: The international journal of biochemistry & cell b

VOLUME: 39

Page Numbers: 298-310

Journal Abbreviation: Int. J. Biochem. Cell Biol.

ISSN: 1357-2725

DAY: 18

MONTH: 08

YEAR: 2006

Functional assays for BRCA1 and BRCA2. Information

Number of References: 93

LANGUAGE: eng

NlmUniqueID: 9508482

Functional assays for BRCA1 and BRCA2. Keywords Mesh Terms:

KEYWORDS: Sensitivity and Specificity

MESH TERMS: methods

Chemical & Substance for Abstract: Functional assays for BRCA1 and BRCA2. Information

Substance Name: BRCA2 Protein

Registry Number: 0

Grant and Affiliation Information for Functional assays for BRCA1 and BRCA2.

AFFILIATION: Department of Risk Assessment, Detection, and Intervention, H. Lee Moffitt Cancer Center & Research Institute, 12902 Magnolia Drive, Tampa, FL 33612, USA.

Country: England

AGENCY: United States NCI

GRANT: R01 CA092309-05

ACRONYM: CA

MEDLINETA: Int J Biochem Cell Biol

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