Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
Logan C Walker, Phillip J Whiley, Fergus J Couch, Daniel J Farrugia, Sue Healey, Diana M Eccles, Feng Lin, Samantha A Butler, Sheila A Goff, Bryony A Thompson, Sunil R Lakhani, Leonard M Da Silva, Sean V Tavtigian, David E Goldgar, Melissa A Brown, Amanda B Spurdle
Human Mutation | WILEY | Published : 2010
Awarded by NHMRC
Awarded by NIH
Awarded by Breast Cancer specialized Program in research Excellence
Awarded by American Cancer Society
We gratefully acknowledge the participation of the families concerned. We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. We thank Myriad Genetic Laboratories for information used to derive family history scores and investigate co-occurrence of variants with pathogenic. We thank Bruce Castle for providing clinical samples, and Joanne Dunlop from the West Midlands Regional Genetics Laboratory and Diana Barelle from the Wessex Regional Genetics Laboratory, for access to results from RNA analysis of BRCA1 c.4868C>G (p.Ala1623Gly).Funding: This work was supported by a grant from The National Health and Medical Research Council (NHMRC) [ID442970]. kConFab is supported by grants from the National Breast Cancer Foundation, the NHMRC and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. The kConFab Clinical Follow Up Study was funded by NHMRC grants [145684 and 288704]. PW was awarded a scholarship by the QIMR Higher Degrees Committee. ABS is an NHMRC Senior Research Fellow, LDaS was supported by a fellowship from the Ludwig Institute for Cancer Research. FC, SVT and DEG were supported in part by the INHERIT BRCAs programme from the Canadian Institute for Health Research. FJC was supported by NIH grants [CA116167] and a Breast Cancer specialized Program in research Excellence grant [P50 CA116201] and an American Cancer Society award [RSG-04-220-01-CCE].