Show simple item record

dc.contributor.authorWoodward, E. R.
dc.contributor.authorvan Veen, E. M
dc.contributor.authorEvans, D Gareth R
dc.date.accessioned2021-08-17T12:22:42Z
dc.date.available2021-08-17T12:22:42Z
dc.date.issued2021en
dc.identifier.citationWoodward ER, van Veen EM, Evans DG. From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes. Breast Care. 2021;16(3):202–13.en
dc.identifier.pmid34248461en
dc.identifier.doi10.1159/000515319en
dc.identifier.urihttp://hdl.handle.net/10541/624440
dc.description.abstractBackground: There has been huge progress over the last 30 years in identifying the familial component of breast cancer. Summary: Currently around 20% is explained by the high-risk genes BRCA1 and BRCA2, a further 2% by other high-penetrance genes, and around 5% by the moderate risk genes ATM and CHEK2. In contrast, the more than 300 low-penetrance single-nucleotide polymorphisms (SNP) now account for around 28% and they are predicted to account for most of the remaining 45% yet to be found. Even for high-risk genes which confer a 40-90% risk of breast cancer, these SNP can substantially affect the level of breast cancer risk. Indeed, the strength of family history and hormonal and reproductive factors is very important in assessing risk even for a BRCA carrier. The risks of contralateral breast cancer are also affected by SNP as well as by the presence of high or moderate risk genes. Genetic testing using gene panels is now commonplace. Key-messages: There is a need for a more parsimonious approach to panels only testing those genes with a definite 2-fold increased risk and only testing those genes with challenging management implications, such as CDH1 and TP53, when there is strong clinical indication to do so. Testing of SNP alongside genes is likely to provide a more accurate risk assessment.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.1159/000515319en
dc.titleFrom BRCA1to polygenic risk scores: mutation-associated risks in breast cancer-related genesen
dc.typeArticleen
dc.contributor.departmentManchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchesteren
dc.identifier.journalBreast Careen
dc.description.noteen]
refterms.dateFOA2021-08-18T09:35:05Z


Files in this item

Thumbnail
Name:
34248461.pdf
Size:
455.0Kb
Format:
PDF
Description:
From UNPAYWALL

This item appears in the following Collection(s)

Show simple item record