Professor Rodney Scott - Selected publications

Ford, D., Easton, D.F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop D.T., Weber, B., Lenoir, G., Chang-Claude, J., Sobol, H., Teare, M.D., Struewing, J., Arason, A., Scherneck., S., Peto, J., Rebbeck, T., Tonin, P., Neuhausen, S., Barkardottir, R., Eyfjord, J., Lynch, H., Ponder, B., Birch, J.M., Lindblom, A., Stoppa-Lyonet, D., Bignon, Y., Borg, A., Hamman, U., Haites, N., Scott, R.J., Maugard-Louboutin, and the Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet. 62: 676-689, 1998.

This report is the first to comprehensively estimate the types of disease associated with inherited mutations in the breast cancer susceptibility genes BRCA1 and BRCA2.  This information has been crucial for improving the outcomes for women who are genetically predisposed to developing early onset breast and ovarian cancer as well as a number of other malignancies.

Shattuck-Eidens, D., Oliphant, A., McClure, M., McBride, C., Gupte, J., Pruss, D., Tavtigian, S.V., Rubano, T., Staebell, M., Gumpper, K., Lingenfelter, B., Manley, S., Luce, M., Ward, B., Frank, T., Cannon-Albright, L., Buys, S., Offit, K., Gilewski, T., Norton, L., Giulotto, E., Zoli, W., Ravaioli, A., Nevanlinna, H., Rowley, P., Pilarski, R., Loader, S., Osborne, M.P., Daly, M., Tepler, I., Michaelson, R., Scott, R.J., Radice, P., Pierotti, M., Garber, J.E., Issacs, C., Lippman, M.E., Dosik, M.H., Caligo, M.A., Greenstein, R.M., Weber, B., Burgermeister, R., Skolnick, M. and Thomas, A. , BRCA 1 sequence analysis in women at high risk for susceptibility mutations - Risk factor analysis and implications for genetic testing.  JAMA 278(15):1242-1250, 1997.

This report was the first to examine a large series of women with early onset breast cancer for mutations in the BRCA1 gene. This report is important as it formalized the notion that a significant number of women who develop early onset breast cancer do not harbour mutations in the BRCA1 gene.  It also provided the first comprehensive view of what sort of alterations were to be expected in the BRCA1 gene since only DNA sequencing technology was employed for the analysis.  In comparison to other studies undertaken at the time this represented a significant advance in understanding the role of different mutations in breast cancer predisposition.

Scott, R.J., Froggatt, N.J., Trembath, R.C., Evans, G.R., Hodgson, S.V. and Maher, E.R., Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. Hum. Mol. Genet. 5:1921-1924, 1996.

The disease familial infiltrative fibromatosis is a rare disorder that was originally believed to be a genetic entity in its own right.  Identification of the genetic basis of this disease is a fundamental starting point in elucidating the molecular mechanisms that are involved in the development of infiltrative “tumours” that can not be readily treated. The identification of this disease being allelic to familial adenomatous polyposis significantly advanced our understanding of what molecular processes are involved in this disorder. This, in turn, has lead a better understanding of the molecular events that underlie the development of desmoid tumours in familial adenomatous polyposis.  This information is currently being applied in the development of new treatments of this disease.

Scott R.J., McPhillips, M., Meldrum, C.J., Fitzgerald, P.E., Spigelman, A.D., Tucker, K., Kirk, J., and the Hunter Family Cancer Service. Hereditary non polyposis colorectal cancer in 95 families: Differences between mutation positive and mutation negative kindreds.  Am. J. Hum Genet. 68:118-127, 2001.

For families with hereditary non polyposis colorectal cancer (HNPCC) accurate knowledge about the likelihood of any given malignancy is crucial for the establishment of effective screening measures to reduce the risk of malignancy. This report is important as it has obtained data from 95 families representing over 3000 individuals thereby providing sufficient statistical power to develop disease risk estimates.  Our understanding of this disorder has been extended and more importantly management of families is significantly more targeted.

Esteem factors

  • Several highly esteemed works on inherited breast cancer have been each cited over 200 times (according to the Web of Science).
  • Editor-in-Chief Hereditary Cancer in Clinical Practice - a journal that focuses on clinical aspects of hereditary cancer.
  • Invited National Speaker, Plenary Lecture: The Genetic basis of early familial colorectal cancer, Australasian Association of Clinical Biochemists 41st Scientific Conference, Gold Coast, September 23 – 26, 2003.
  • Invited International Speaker Plenary Lecture: Gene Environment interaction in cancer. Regional Conference on Molecular Medicine “From Molecular Mechanisms to Clinical Practice” 9th -11th September 2005 Kuala Lumpur, Malaysia.
  • Invite Speaker Translation of medical research into clinical practice or From Bench to Bedside.  The Hunter Medical Research Institute Inaugural Cancer Conference ~ New Therapeutics, Newcastle, Australia October 4 - 6, 2004.
  • HMRI award for Outstanding Achievement in Cancer Research 2004
  • Appointment as the NBN Children’s Cancer Research Fellow 2005