Clinical Pathology - Research Publications

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    The role of genetic factors in predisposition to squamous cell cancer of the head and neck.
    Jefferies, S ; Eeles, R ; Goldgar, D ; A'Hern, R ; Henk, JM ; Gore, M (Springer Science and Business Media LLC, 1999-02)
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    Cells capable of bone production engraft from whole bone marrow transplants in nonablated mice
    Nilsson, SK ; Dooner, MS ; Weier, HU ; Frenkel, B ; Lian, JB ; Stein, GS ; Quesenberry, PJ (ROCKEFELLER UNIV PRESS, 1999-02-15)
    Allogeneic and autologous marrow transplants are routinely used to correct a wide variety of diseases. In addition, autologous marrow transplants potentially provide opportune means of delivering genes in transfected, engrafting stem cells. However, relatively little is known about the mechanisms of engraftment in transplant recipients, especially in the nonablated setting and with regard to cells not of hemopoietic origin. In particular, this includes stromal cells and progenitors of the osteoblastic lineage. We have demonstrated for the first time that a whole bone marrow transplant contains cells that engraft and become competent osteoblasts capable of producing bone matrix. This was done at the individual cell level in situ, with significant numbers of donor cells being detected by fluorescence in situ hybridization in whole femoral sections. Engrafted cells were functionally active as osteoblasts producing bone before being encapsulated within the bone lacunae and terminally differentiating into osteocytes. Transplanted cells were also detected as flattened bone lining cells on the periosteal bone surface.
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    BRCA1 mutations and other sequence variants in a population based sample of Australian women with breast cancer
    Southey, MC ; Tesoriero, AA ; Andersen, CR ; Jennings, KM ; Brown, SM ; Dite, GS ; Jenkins, MA ; Osborne, RH ; Maskiell, JA ; Porter, L ; Giles, GG ; McCredie, MRE ; Hopper, JL ; Venter, DJ (CHURCHILL LIVINGSTONE, 1999-01)
    The frequency, in women with breast cancer, of mutations and other variants in the susceptibility gene, BRCA1, was investigated using a population-based case-control-family study. Cases were women living in Melbourne or Sydney, Australia, with histologically confirmed, first primary, invasive breast cancer, diagnosed before the age of 40 years, recorded on the state Cancer Registries. Controls were women without breast cancer, frequency-matched for age, randomly selected from electoral rolls. Full manual sequencing of the coding region of BRCA1 was conducted in a randomly stratified sample of 91 cases; 47 with, and 44 without, a family history of breast cancer in a first- or second-degree relative. All detected variants were tested in a random sample of 67 controls. Three cases with a (protein-truncating) mutation were detected. Only one case had a family history; her mother had breast cancer, but did not carry the mutation. The proportion of Australian women with breast cancer before age 40 who carry a germline mutation in BRCA1 was estimated to be 3.8% (95% CI 0.3-12.6%). Seven rare variants were also detected, but for none was there evidence of a strong effect on breast cancer susceptibility. Therefore, on a population basis, rare variants are likely to contribute little to breast cancer incidence.