BRCA1 – BIC Database
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BRCA1 and BRCA2 Mutation Data and Associated Genes, Slides of Human Resource Management
Information on the frequency and types of mutations in the brca1 and brca2 genes among various populations. It also discusses the role of these genes in breast cancer risk and mentions other associated genes. Data on missense, nonsense, frameshift, and splicing mutations, as well as their relative risks and minor allele frequencies.
Typology: Slides
2012/2013
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BRCA1 – BIC Database
BRCA1 and BRCA2 Founder Mutations
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Icelanders
Dutch
German, Swedish, Polish, Spanish,
Cypriot, Afrikaner, Malaysian
Ashkenazi Jews
BRCA1 Mutation Data
Missense 2734 489 259
The Unclassified Variant Problem
Breast Cancer Genes
- high penetrance / low frequency
- low penetrance / high prevalence
BRCA1, BRCA
low relative risk, high attributable risk
Association Studies!
Relative Risk
Minor Allele Frequency (%)
Adapted from Foulkes WD NEJM , 359:2143, 2008
Breast Cancer Genes
BRCA
BRCA
TP
ATM
BRIP
CHEK
PALB
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Genome Wide Association Study
Relative Risk
Minor Allele Frequency (%)
Adapted from Foulkes WD NEJM , 359:2143, 2008
Breast Cancer Genes
BRCA
BRCA
TP
ATM
BRIP
CHEK
PALB
MAP3KI
8q
TOX
6q
CASP
LSP
FGFR
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