- To collect breast tumour tissue, DNA, family history and clinical information from BRCA1 variant carriers whose gene change is thought to allow expression of an altered BRCA1 protein to test two assumptions currently used in variant classification research.
- To examine breast tumour tissue for features thought to predict BRCA1 variant pathogenicity.
- To define an algorithm for the determination of the pathogenicity of BRCA1 variants of unknown significance.
Protocol flow chart
Affected (breast cancer) carriers of BRCA1:
- Any missense (with a change of amino acid) variant (regardless of co-occuring UV in BRCA2).
- Any in-frame insertion or in-frame deletion variant
- BRCA1 185delAG and 188del11
- Variants in exon 24: (5677insA, 5622C>T (Arg1835ter) 5382insC)
What is involved
- Blood sample for DNA analysis
- Collection of family history and clinical data
- Collection and examination of paraffin embedded cancer tissue
- Follow up (by phone at approx. 2 and 5 years) to record any cancers that have occurred
Caroline Langman (Senior Research Nurse)
7th Floor Tower Wing,
Guy’s Hospital, Great Maze Pond,
London, SE1 9RT.
Tel: 020718 82603
Fax: 020718 82585
Powerpoint presentation of AFFECT Study (ppt, 1,022 KB)