ABSTRACT
The 5-year experience since the identification of the BRCA1 and BRCA2 genes has shown that genetic evaluation and testing can increase understanding of cancer risks for individuals with a personal or family history of early onset breast cancer and ovarian cancer. However, testing needs to be undertaken in a clinical setting where pretest counseling, including likelihood of identifying a mutation and risks and benefits of the process are provided. Identifying women who carry mutations in either BRCA1 or BRCA2 has implications for prevention, screening and treatment of these cancers.
Subject(s)
Breast Neoplasms/genetics , Genes, BRCA1 , Genes, BRCA2 , Genetic Counseling/methods , Genetic Predisposition to Disease , Ovarian Neoplasms/genetics , Breast Neoplasms/epidemiology , Female , Genetic Testing/methods , Heterozygote , Humans , Ovarian Neoplasms/epidemiology , Patient Education as Topic , Prevalence , Risk Assessment , Risk Factors , Sensitivity and SpecificityABSTRACT
Fourteen patients with testicular nonseminomatous germ cell tumor, clinical stage I were entered into a surveillance study. Median age was 31 (range 18-58). Three patients had pure tumor, and 11, mixed tumor. In 2 patients, vascular invasion was noted, and in 1, involvement of the spermatic cord. Serum alpha fetoprotein and beta subunit choriogonadotropin were high in 9 and in 3 patients, respectively. In median follow-up of 21 months (range 2-63), 3 patients relapsed: 1 had inguinal lymphadenopathy and 2 had lung metastases at 12, 4, and 16 months, respectively. Salvage chemotherapy PEB and PVB achieved complete response in the latter 2 patients for 6 and 49 months. Except for 1 patient lost to follow-up, all are alive.
