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By Karen H. Lu

Hereditary Gynecologic melanoma: possibility, Prevention and Management fills the necessity that exists for a publication addressing hugely suitable scientific matters linked to the hot box of hereditary gynecologic cancers. Written with the clinician in brain, the authors will disguise a large variety of issues, starting with an summary discussing scientific relevance of hereditary ovarian and hereditary endometrial cancers. Succeeding sections will supply in-depth analyses of Hereditary Breast Ovarian melanoma Syndrome, Lynch Syndrome, and different syndromes with gynecologic melanoma elements, and genetic possibility assessment.

Hereditary Gynecologic melanoma: chance, Prevention and Management :

  • is the 1st clinically concentrated reference detailing gynecologic sufferer administration problems with BRCA1 and BRCA2 mutation carriers
  • includes a realistic part on genetic threat evaluation and genetic testing
  • examines case reports to illustrate administration suggestions and decision-making
  • provides certain dialogue of ovarian melanoma screening, prevention and hazard decreasing surgery

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Extra resources for Hereditary Gynecologic Cancer: Risk, Prevention and Management

Example text

By comparing normal tissue with tumor tissue in an individual, the MSI assay identifies tumors that have an abnormally functioning DNA mismatch repair system. The National Institutes of Health has specified a panel of six microsatellite regions that can be tested for instability: BAT25, BAT26, BAT40, D5S346, D2S123, and D17S250. By convention, if a tumor has allelic shift in two or more of the six microsatellites, the tumor is designated microsatellite instability–high (MSI-H). Additional details of these two tumor studies are provided in chapter 11 by Russell Broaddus.

There are two key reasons to identify women with endometrial cancer as having Lynch syndrome. , a synchronous or metachronous colon cancer. These women should be offered screening colonoscopy, which has been shown to be effective in the prevention and early detection of colon cancer (3). Second, clinical genetic testing is available for these women. Once, a Lynch syndrome– associated mutation is identified, unaffected family members can then undergo predictive genetic testing. This chapter will highlight characteristics or red flags for clinicians to use to identify women with endometrial cancer as possibly having Lynch syndrome.

GENERAL ASPECTS OF BRCA MUTATION–ASSOCIATED PELVIC CANCER In the United States, epithelial ovarian cancer has the highest mortality rate of any malignancy of the female genital tract (1). Most of these cases are diagnosed at an advanced stage when the opportunity for cure is markedly diminished, reflecting the absence of effective screening strategies. 4% (2). This risk increases in women carrying germline mutations in BRCA1 or 2 from 16% to 54% (3–6). Prior studies have demonstrated up to a 96% reduction in the risk of ovarian cancer development in at-risk women undergoing prophylactic surgery (7,8).

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