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Genetic Testing for BRCA

BRCA Testing
Breast Cancer Counseling

Genetic Testing for the BRCA genes in Hereditary Breast and Ovarian Cancer

is an important method for identifying patients who are at high risk.  The difficulty has always been identifying those at high risk.

Testing only Women with a family history of breast or ovarian cancer will identify only half the women with mutations

There becomes two issues: 1: Identifying Women at High Risk for Breast and Ovarian Cancer and 2:The established criteria where insurance will pay for testing.

The National Comprehensive Cancer Network (NCCN)…

Breast Cancer Risk Factors

Breast Cancer

Breast Cancer Risk Factors

We published a paper almost a decade ago in the Journal of Women’s Health which showed that most women were very INACCURATE in determining their breast cancer risk.  This conclusion was surprising because there is a wealth of information about breast cancer available on the internet, through health and medical websites and from health-care practitioners who are much more educated about Breast Cancer then they were in the past.

Why are Women mistaken about their Breast Cancer Risk?

From our study, it turns out that most women were somewhat familiar with Breast Cancer risk factors but…

Confirmation of Mast Cell Activation Disease

Mast Cell Activation

Mast Cell Activation Disease

is often difficult to diagnose.  Much of the diagnosis requires clinical signs and symptoms and criteria have been established (see excellent Journal Article in Journal of Hematology and Oncology by Molderings et al.). However, Mast Cell Activation can also be a sequelae of other disease processes as seen recently in a patient with CD8 promoter genetic mutations where the Mast Cell Activation was a consequence of CD8 immune dysregulation.

So confirmation of Mast Cell Activation Disease is important.  Often a diagnosis requires a tissue biopsy showing elevated numbers of Mast Cells.  In many individuals the problem…

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