Growing recognition of the role for rare missense substitutions in breast cancer susceptibility

Tavtigian, Sean V. and Chenevix-Trench, Georgia (2014) Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomarkers in Medicine, 8 4: 589-603. doi:10.2217/bmm.13.143

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Author Tavtigian, Sean V.
Chenevix-Trench, Georgia
Title Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
Journal name Biomarkers in Medicine   Check publisher's open access policy
ISSN 1752-0371
1752-0363
Publication date 2014
Sub-type Critical review of research, literature review, critical commentary
DOI 10.2217/bmm.13.143
Open Access Status
Volume 8
Issue 4
Start page 589
End page 603
Total pages 15
Place of publication London, England, U.K.
Publisher Future Medicine Ltd.
Collection year 2015
Language eng
Subject 1308 Clinical Biochemistry
2704 Biochemistry, medical
3002 Drug Discovery
2700 Medicine
Abstract Most cancer susceptibility genes function as tumor suppressors; accordingly, the focus of mutation screening in breast cancer families has been to identify protein-truncating mutations. However, it is now clear that, for some breast cancer susceptibility genes, a significant proportion of the burden of disease comes from rare missense substitutions. Among genes that have been extensively evaluated, BRCA1, BRCA2, PALB2 and BRIP1 stand as examples where the majority of mutations lead to protein truncation;TP53 provides a counter example, where the majority of pathogenic variants are missense substitutions. In ATM and CHEK2, missense substitutions are probably equally or more important in terms of their frequency and attributable risk. Therefore, ongoing efforts to identify new susceptibility genes should not ignore missense variation.
Keyword ATM
BRCA1
BRCA2
breast cancer
CHEK2
genetic susceptibility
homologous recombination repair
missense substitution
rare variant
unclassified variant
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2015 Collection
School of Medicine Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 8 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 26 Mar 2015, 08:52:47 EST by Matthew Lamb on behalf of School of Medicine