OVARIAN CANCER and US: mmr mutation carriers

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Showing posts with label mmr mutation carriers. Show all posts
Showing posts with label mmr mutation carriers. Show all posts

Sunday, September 12, 2010

New Strategies in Ovarian Cancer: Uptake and experience of women at high risk of ovarian cancer who are considering risk-reducing salpingo-oophorectomy



Abstract

This paper reviews factors associated with uptake of risk-reducing salpingo-oophorectomy by women at increased hereditary risk for ovarian cancer, as well as quality of life issues following surgery. Forty one research studies identified through PubMed and PsychInfo met inclusion criteria. Older age, having had children, a family history of ovarian cancer, a personal history of breast cancer, prophylactic mastectomy, and BRCA1/2 mutation carrier status increase the likelihood of undergoing surgery. Psychosocial variables predictive of surgery uptake include greater perceived risk of ovarian cancer and cancer-related anxiety. Most women report satisfaction with their decision to undergo surgery and both lower perceived ovarian cancer risk and less cancer-related anxiety as benefits. Hormonal deprivation is the main disadvantage reported, particularly by premenopausal women who are not on hormonal replacement therapy (HRT). The evidence is mixed regarding satisfaction with the level of information provided prior to surgery, although generally women report receiving insufficient information regarding the pros and cons of HRT. These findings indicate that when designing decision aids, demographic, medical history, and psychosocial variables need to be addressed in order to facilitate quality decision making.

Tuesday, June 29, 2010

abstract/free full access: Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers -- Sjursen et al. -- Journal of Medical Genetics



Conclusion:
Amsterdam criteria and each of the Bethesda criteria were inadequate for identifying MSH6 mutation-carrying kindreds. MSH6 mutations may be more common than currently assumed, and the penetrance/expression of MSH6 mutations, as derived from families meeting current clinical criteria, may be misleading. To increase detection rate of MMR mutation carriers, all cancers in the Lynch syndrome tumour spectrum should be subjected to immunohistochemical analysis and/or analysis for microsatellite instability.