The latest #BCAC paper ( just published in @CommsBio looks at breast cancer risk from rare inherited CNVs (genetic deletions and duplications). First time this has been done in a large dataset (87,000 cases, 76,000 controls.).

RT @Cambridge_Uni: 30 years ago a landmark paper identified the BRCA1 gene that significantly increases the risk of #BreastCancer and #Ovar….

RT @Aoxing2: New out in Nature!! .With age, women can lose one X chromosome in their leukocytes. What’s the cause/consequence? .How does it….

RT @CCGE_Cambridge: Analysis of breast tumour pathology subtypes associated with nine breast cancer susceptibility genes from the BRIDGES….

Thanks go to many co-authors and the many people involved in building up the #BCAC dataset over the years such as Doug Easton, @KyrMichailidou @LeilaDorling Jonathan Tyrer @paulpharoah @alison_amd24 @CCGE_Cambridge.

Results: strongest associations for coding deletions within known susceptibility genes such as BRCA1 and CHEK2. Suggestive associations with a large effect on risk seen for rare non-coding CNVs, some at genomic loci already associated with breast cancer and others at novel loci.

We used the CamCNV method ( to detect CNVs from genotyping array intensities – CamCNV ( cuts out a lot of the noise to generate reliable calls for rare CNVs.