BRCA unclassified variants: How can they be classified?

Research output: Contribution to journalArticle

Abstract

Genetic screening of BRCA1 and BRCA2 genes is a recurrent practice in laboratories for counseling. In the last ~20 years, investigators have identified mutations with a founder effect, but also a series of private variants. Multi-component models have been developed to understand if a variant is deleterious or neutral. However, these models are not sufficient to understand the roles of UVs. In this review, we report results from genetic analyses, studies in animal models and bioinformatic analyses. To combine evidences from different approaches, consortia have been created (such as ENIGMA). There is a need to develop a reliable multi-factorial model. Furthermore, indirect assays and bioinformatic tools have to be improved in order to support such a model.

Original languageEnglish
Pages (from-to)30-37
Number of pages8
JournalCurrent Women's Health Reviews
Volume8
Issue number1
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Computational Biology
BRCA2 Gene
BRCA1 Gene
Founder Effect
Genetic Testing
Counseling
Animal Models
Research Personnel
Mutation

Keywords

  • BRCA1
  • BRCA2
  • Breast cancer
  • Consortia
  • UVs
  • Variants

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

BRCA unclassified variants : How can they be classified? / Tommasi, Stefania; de Summa, Simona; Pilato, Brunella; Paradiso, Angelo.

In: Current Women's Health Reviews, Vol. 8, No. 1, 02.2012, p. 30-37.

Research output: Contribution to journalArticle

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