Cancer genetic testing and assisted reproduction.

Purpose: Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations.

Methods: A review of the published literature supplemented by a survey of PGD centers in the United States.

Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families.

Women from site-specific hereditary breast cancer families who carry a BRCA1 or BRCA2 mutation are at increased risk for ovarian cancer. It is less clear, however, whether individuals from hereditary breast cancer families who do not carry such a mutation are also at increased ovarian cancer risk. To determine whether women from BRCA mutation-negative hereditary breast cancer families are at increased risk for ovarian cancer, 199 probands from BRCA mutation-negative, site-specific breast cancer kindreds who consented to prospective follow-up at the time of genetic testing were identified.

The "duty to warn" a patient's family members about hereditary disease risks.

Genetic tests for adult-onset disorders, including common forms of cancer, are now commercially available, and tests for genetic polymorphisms that predict drug effects or toxicity after treatment are under development. For each of these circumstances, testing of 1 individual may imply an increased risk to his/her relative. The obligation, if any, to warn family members of the identification of a genetic mutation has generated concerns regarding the conflict between the physician's ethical obligations to respect the privacy of genetic information vs the potential liabilities resulting from the physician's failure to notify at-risk relatives.

BRCA mutations and risk of prostate cancer in Ashkenazi Jews.

Purpose: The Breast Cancer Linkage Consortium and other family-based ascertainments have suggested that male carriers of BRCA mutations are at increased risk of prostate cancer. Several series looking at the frequency of BRCA mutations in unselected patients with prostate cancer have not confirmed this finding. To clarify this issue, we conducted a large case-control study.