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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

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  • Additional supplementary figures are published online only. To view these files please visit the journal online (http://jmg.bmj.com)

  • Funding This work was supported in part by project grants from The National Health and Medical Research Council (NHMRC) to ABS. ABS is supported by an NHMRC Senior Research Fellowship. 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). BJF is supported by the Canadian Institutes of Health Research Team Grant in Familial Risks of Breast Cancer CRN-87521. AL thanks the Swedish Cancer Society for support. The work of the German Consortium GC-HBOC is supported by a grant of the German Cancer Aid (grant 107364, RKS) and by the Centre for Molecular Medicine Cologne, Cologne, Germany (RKS, BW). The French Consortium thanks the Association d'Aide à la Recherche Cancérologique de Saint Cloud (ARCs) and the Ligue 92 contre le Cancer for their financial support. FJC and DEG are supported by NIH grant CA116167, an NIH Recovery Act supplement (CA116167Z), and an NIH Specialised Programme of Research Excellence (SPORE) in Breast Cancer (CA116201). LG is supported by a Komen Race for the Cure Fellowship. Research by TvOH was supported by the NEYE Foundation. SMD is supported by funding from the Komen Foundation for the Cure. Ohio State University CCG is supported by the OSU Comprehensive Cancer Center (AET). EJVR is funded by grants from the Cancer Association of South Africa. The research coordinated by MPGV was supported by Dutch Cancer Society grants 2001-2471 and 2006-3677. DEG is supported by NIH grant CA116167. Coordination of ENIGMA is funded by The National Institutes of Health Recovery Act supplement award (CA116167Z).

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Additional supplementary figures are published online only. To view these files please visit the journal online (http://jmg.bmj.com)

  • Funding This work was supported in part by project grants from The National Health and Medical Research Council (NHMRC) to ABS. ABS is supported by an NHMRC Senior Research Fellowship. 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). BJF is supported by the Canadian Institutes of Health Research Team Grant in Familial Risks of Breast Cancer CRN-87521. AL thanks the Swedish Cancer Society for support. The work of the German Consortium GC-HBOC is supported by a grant of the German Cancer Aid (grant 107364, RKS) and by the Centre for Molecular Medicine Cologne, Cologne, Germany (RKS, BW). The French Consortium thanks the Association d'Aide à la Recherche Cancérologique de Saint Cloud (ARCs) and the Ligue 92 contre le Cancer for their financial support. FJC and DEG are supported by NIH grant CA116167, an NIH Recovery Act supplement (CA116167Z), and an NIH Specialised Programme of Research Excellence (SPORE) in Breast Cancer (CA116201). LG is supported by a Komen Race for the Cure Fellowship. Research by TvOH was supported by the NEYE Foundation. SMD is supported by funding from the Komen Foundation for the Cure. Ohio State University CCG is supported by the OSU Comprehensive Cancer Center (AET). EJVR is funded by grants from the Cancer Association of South Africa. The research coordinated by MPGV was supported by Dutch Cancer Society grants 2001-2471 and 2006-3677. DEG is supported by NIH grant CA116167. Coordination of ENIGMA is funded by The National Institutes of Health Recovery Act supplement award (CA116167Z).

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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