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Bruce Ponder
Researcher at University of Cambridge
Publications - 28
Citations - 2116
Bruce Ponder is an academic researcher from University of Cambridge. The author has contributed to research in topics: Breast cancer & Germline mutation. The author has an hindex of 16, co-authored 28 publications receiving 2062 citations. Previous affiliations of Bruce Ponder include Fred Hutchinson Cancer Research Center.
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Journal ArticleDOI
Localization of the gene for Cowden disease to chromosome 10q22-23
Marcel R. Nelen,George W. Padberg,E. A. J. Peeters,Albert Y. Lin,B. Van Den Helm,Rune R. Frants,Valérie Coulon,Alisa M. Goldstein,M.M.M. van Reen,Douglas F. Easton,Rosalind A. Eeles,Shirley Hodgson,John J. Mulvihill,Victoria Murday,Monica Tucker,E.C.M. Mariman,T. M. Starink,Bruce Ponder,Hans-Hilger Ropers,Hannie Kremer,Michel Longy,Charis Eng,Charis Eng +22 more
TL;DR: Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer and central nervous system manifestations of CD were emphasized only recently.
Journal Article
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC
Charis Eng,Darrin P. Smith,Lois M. Mulligan,Catherine S. Healey,Marketa Zvelebil,Timothy J. Stonehouse,M. A. Ponder,C. E. Jackson,M. D. Waterfield,Bruce Ponder +9 more
TL;DR: A missense mutation in the intracellular tyrosine kinase domain of RET is reported in the germline of a family with FMTC that does not have a cysteine codon mutation, confirming that it is likely to be of pathological significance rather than a rare polymorphism.
Journal ArticleDOI
Germline mutation of RET codon 883 in two cases of de novo MEN 2B
TL;DR: The identification of a new germline RET mutation (A883F) in two de novo cases of MEN 2B will contribute to understanding the molecular basis of MEN2B, and will assist in the clinical management of families harbouring this mutation.
Journal Article
Effect of germ-line genetic variation on breast cancer survival in a population-based study.
Ellen L. Goode,Alison M. Dunning,Bettina Kuschel,Catherine S. Healey,Nicholas E. Day,Bruce Ponder,Douglas F. Easton,Paul P.D. Pharoah +7 more
TL;DR: The results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.
Journal ArticleDOI
RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2.
M. J. Lorenzo,Gerald D. Gish,Carol Houghton,Timothy J. Stonehouse,Tony Pawson,Bruce Ponder,Darrin P. Smith +6 more
TL;DR: Using RET activated by a MEN 2 mutation, it is shown that both the SH2 and PTB domains of the adaptor protein Shc interact with RET, and the PTB domain interaction site is identified.