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The BOADICEA Project – translational research in practice

Published byRodney Hopkins Modified over 8 years ago

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Presentation on theme: "The BOADICEA Project – translational research in practice"— Presentation transcript:

1 The BOADICEA Project – translational research in practice
Alex Cunningham, Antonis Antoniou, Nasim Mavaddat, Andrew Lee and Douglas Easton Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge IPH, 14th February 2011

2 Excess familial risk of breast cancer
BOADICEA Project – translational research in practice Unexplained BRCA1 BRCA2 FGFR2 ,TNRC9 MAP3K1,LSP1 8q24, 2q35, 5p12 ...etc CHEK2 ATM PALB2 BRIP1 TP53 PTEN LKB1 Excess familial risk of breast cancer BRCA1/BRCA2 mutations confer high risks of breast and ovarian cancer

3 BOADICEA project objective
BOADICEA Project – translational research in practice BOADICEA project objective To develop a comprehensive risk model for familial breast cancer BC 50 44 73 75 BC 47 53 BC 61 BC 40 69 58 60 62 71 45 BC 41 48 Probability that an individual carries a BRCA1 or BRCA2 mutation? Probability of developing breast or ovarian cancer in the future?

4 BOADICEA Web Application (BWA)
BOADICEA Project – translational research in practice BOADICEA Web Application (BWA) BOADICEA predicts BRCA1/BRCA2 mutation carrier probabilities and breast/ovarian cancer risks BWA makes BOADICEA easy to use in a clinical setting An example of translational research where tools developed by CCGE scientists are used by healthcare professionals

5 Latest software release
BOADICEA Project – translational research in practice Latest software release BWA v2 released in Aug 2010 ~600 BWA v2 users*, ~30 concurrent sessions Used by clinical geneticists to assess eligibility for genetic testing, researchers and the public *In the UK, USA, Canada, South America, Europe, Africa, Middle East, SE Asia, Australia and New Zealand

6 BOADICEA Web Application
BOADICEA Project – translational research in practice BOADICEA Web Application FEATURES Online pedigree building beyond 2nd degree Functions to edit, add, delete and twin family members Pedigree upload module Model parameters module

7 BOADICEA Web Application
BOADICEA Project – translational research in practice BOADICEA Web Application FEATURES Online pedigree drawing

8 BOADICEA Web Application
BOADICEA Project – translational research in practice BOADICEA Web Application FEATURES Results tabulated online Processing report PDF

9 Additional information
BOADICEA Project – translational research in practice Additional information BOADICEA homepage: Papers describing model theory and performance BWA user guide FAQs

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