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BRCA2 T2722R is a deleterious allele that causes exon skipping.

Abstract：

:Patients with a strong family history of breast cancer are often counseled to receive genetic screening for BRCA1 and BRCA2 mutations, the strongest known predictors of breast cancer. A major limitation of genetic testing is the number of inconclusive results due to unclassified BRCA1 and BRCA2 sequence variants. Many known deleterious BRCA1 and BRCA2 mutations affect splicing, and these typically lie near intron/exon boundaries. However, there are also potential internal exonic mutations that disrupt functional exonic splicing enhancer (ESE) sequences, resulting in exon skipping. Using previously established sequence matrices for the scoring of putative ESE motifs, we have systematically examined several BRCA2 mutations for potential ESE disruption mutations. These predictions revealed that BRCA2 T2722R (8393C-->G), which segregates with affected individuals in a family with breast cancer, disrupts three potential ESE sites. Reverse-transcriptase polymerase chain reaction analysis confirms that this mutation causes exon skipping, leading to an out-of-frame fusion of BRCA2 exons 17 and 19. This represents the first BRCA2 missense mutation shown to be a predicted deleterious protein-truncating mutation and suggests a potentially useful method for determining the clinical significance of a subset of the many unclassified variants in BRCA1 and BRCA2.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Fackenthal JD,Cartegni L,Krainer AR,Olopade OI

doi

10.1086/342192

subject

Has Abstract

pub_date

2002-09-01 00:00:00

pages

625-31

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60342-5

journal_volume

71

pub_type

杂志文章

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