Familial Breast and Ovarian Cancer: Genetics, Screening and by Patrick J. Morrison, Shirley V. Hodgson, Neva E. Haites

By Patrick J. Morrison, Shirley V. Hodgson, Neva E. Haites

This book surveys the profound and far-reaching ramifications that experience arisen from the very major advances in realizing the genetic foundation of familial breast and ovarian melanoma. Written by means of overseas specialists from Europe and North the US, this ebook offers the busy clinician with a latest and wide-ranging consultant to the newest advancements in analysis, genetics, screening, prevention, and administration. additionally, the amount discusses moral and coverage concerns, unique cultural changes in breast melanoma and use of lately devised melanoma genetics clinics. different referral standards and styles to those clinics are particular.

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Extra resources for Familial Breast and Ovarian Cancer: Genetics, Screening and Management

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Cancer Surv 9(3): 395–416. Easton DF, Ford D, Bishop DT and Breast Cancer Linkage Consortium (1995). Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 56: 265–71. FitzGerald MG, MacDonald DJ, Krainer M, et al. (1996). Germ-line mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334: 143–9. Fodor FH, Weston A, Bleiweiss IJ, et al. (1998). Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients.

It has now become obvious that PTEN may be inactivated by several diVerent mechanisms, and not just somatic intragenic mutations. Several mechanisms of inactivation can occur in a single tumour type, although the sense is that one particular mechanism predominates in any one tissue type. For example, in the endometrial neoplasia system, either two genetic hits, or one genetic hit and one epigenetic silencing hit, can occur, although the latter predominates. , 2000a). In contrast, PTEN might also be inactivated by diVerential subcellular compartmentalization, as illustrated by thyroid neoplasia and endocrine pancreatic tumours.

Decreasing PTEN expression was observed with a declining degree of diVerentiation. Decreasing nuclear PTEN expression seemed to precede that in the cytoplasm. The thyroid data suggest that in addition to structural deletion, inappropriate subcellular compartmentalization might also contribute to PTEN inactivation. , 2000). Instead, 10q loss was associated with malignant status. , 2000). , 1997). , 1997). , 2000). , 2000). In matched pre-cancers, 55% had intragenic mutation while 75% had no expression.

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