R. Angioli et al., HEREDITARY AND SPORADIC OVARIAN-CANCER - GENETIC TESTING AND CLINICALIMPLICATIONS (REVIEW), International journal of oncology, 12(5), 1998, pp. 1029-1034
The two most common forms of hereditary ovarian cancer are: the breast
ovarian cancer syndrome, and ovarian cancer associated with HNPCC (he
reditary nonpolyposis colorectal cancer) syndrome. Studies have shown
that these diseases may be associated with mutations in a number of tu
mor suppressor genes, mainly BRCA1 and BRCA2. Malfunction of the prote
in products of these genes have also been found to be involved in spor
adic ovarian cancer, which makes up the majority of ovarian cancer cas
es. HNPCC-ovarian cancer associated families reveal frequent mutations
in at least four genes (hMSH2, hMLH1, hPMS1, and hPMS2) involved in t
he repair of mismatched DNA. With ovarian cancer being such an importa
nt health issue, the push is on to design reliable screening tests to
detect defective inherited or somatic alleles in individual carriers.
So far, most progress has been demonstrated in those patients with fam
ily histories of the disease who are at increased risk. The ramificati
ons of such research may impact a variety of scientific, clinical, leg
al, ethical, and psychosocial issues. In addition to current treatment
modalities, positive results of these tests may indicate the need for
increased clinical surveillance, prophylactic treatment, and genetic
counseling of patients on an individual basis. It remains to be seen w
hether the technology can be made reliable enough to not only benefit
high-risk individuals but also the general population.