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Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

Human mutation - 1 Nov 2005

Tesoriero A A, Wong E M, Jenkins M A, Hopper J L, Brown M A, Chenevix-Trench G, Spurdle A B, Southey M C

Abstract excerpt

Genetic screening of women from multiple-case breast cancer families and other research-based endeavors have identified an extensive collection of germline variations of BRCA1 and BRCA2 that can be classified as deleterious and have clinical relevance. For some variants, such as those in the conserved intronic splice site regions which are highly likely to alter splicing, it is not possible to classify them based...

Topics

Alternative Splicing
Breast Neoplasms
Data Interpretation, Statistical
Family Health
Female
Genes, BRCA1
Genes, BRCA2
Genetic Variation
Humans
Ovarian Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

RNA, Messenger

Risk Factors

Source

Identifiers

PMID: 16211554
DOI: 10.1002/humu.9379

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.PMID 16211554Read ↗

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