Genetic Counseling

Lynch syndrome is a hereditary cancer syndrome that places individuals at an increased risk for colorectal, endometrial, stomach, ovarian, urothelial, and other cancers.
One of the challenges of improving cancer care is the integration of genetic risk assessment into survivorship care.
PARP inhibitors were the first class of drugs specifically developed to treat BRCA-related tumors by targeting the DNA repair pathway. Although they were developed more than a decade ago, the FDA only granted approval for their clinical use a few years ago.
Screening of colorectal cancer (CRC) tumors for mismatch repair (MMR) deficiency has been shown to increase the identification of patients with Lynch syndrome.
Parents with inherited cancer mutations often wonder when to disclose results to their children and what affect it will have on them.
Advances in technology and decreased testing costs have led to a rise in the number of genes associated with inherited cancer risk for which testing is clinically available.

BRCA1 and BRCA2 mutations have been shown to confer an increased risk for ovarian, fallopian tube, and primary perineal cancer. As a result, guidelines recommend bilateral salpingo-oophorectomy (BSO) upon completion of child bearing, and preferably between the ages of 35 and 40 years as a risk-reducing option. However, what has been less clear is the association of uterine cancer with BRCA. The data have been conflicting: some studies have suggested a slight increased risk, but others have not. Therefore, hysterectomy has not been included in national medical management guidelines.

The ability to analyze multiple genes at the same time has led to the estimate that 20% to 25% of women with ovarian cancer have an inherited mutation in a cancer-predisposing gene.
In the past few years, some of the classic phenotypes and associated cancer risk estimates of inherited cancer syndromes have been questioned. This is due partly to increased access to genetic testing as well as to the availability of next-generation sequencing (NGS) panels for inherited cancer.
The ability to analyze multiple genes at the same time has led to the estimate that 20% to 25% of women with ovarian cancer have an inherited mutation in a cancer‑predisposing gene. Although this association has been noted for a while, until recently there was not enough data available to determine the lifetime ovarian cancer risk for women with a mutation in some of these genes.
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