HIGH FREQUENCY OF OVARIAN CANCER MARKERS FOUND IN ASHKENAZI JEWISH FEMALES: Newly Released Study Recommends Genetic Testing of Gynecologic Cancer Victims in this High Risk Group, Regardless of Family History

CHICAGO, NOVEMBER 24, 1997--Ashkenazi Jewish women have been found to possess genetic markers for both breast and ovarian cancers at a high frequency rate, precipitating a call for genetic testing for all breast and ovarian cancer victims in this population, regardless of family history. A new research study by an Israeli medical team found that the presence of these genetic markers, BRCA 1 and BRCA 2 mutations, for breast and ovarian cancers are sporadic as well as familial (affecting more members of the same family than can be accounted for by chance).

Accordingly, the study recommends that all Ashkenazi Jewish women with these gynecologic cancers undergo genetic testing to determine if these genetic markers are present. Finding the presence of BRCA1 and BRCA2 mutations would differentiate between carriers and non-carriers, thereby providing immediate significance to a carrier's family members.

The study, "High Frequency of BRCA1 & BRCA2 Germline Mutations in Ashkenazi Jewish Ovarian Cancer Patients, Regardless of Family History," is published in the November issue of Gynecologic Oncology, the scientific publication of the Society of Gynecologic Oncologists (SGO). Presenting their research results are Uziel Beller, MD, David Halle, PhD, Raphael Catane, MD, Bella Kaufman, MD, Gila Hornreich, MD, and Ephrat Levy-Lahad, MD, all from Shaare Zedek Medical Center, Jerusalem, Israel.

"This study contributes to the ongoing dialogue in the medical community regarding the long-term value of genetic testing," stated Peter Schwartz, MD, Professor of Gynecologic Oncology at Yale University and President of the Society of Gynecologic Oncologists. Dr. Schwatz added, "Dr. Beller's recommendations could conceivably be implemented in Israel where its national health system covers genetic testing. In the United States, such testing is not generally covered by medical insurance programs making implementation of this new widespread screening technique impractical at this time."

Background: Ovarian cancer is the most lethal of all gynecologic malignancies. Unfortunately, it has no detectable pre-malignant stage, and is therefore usually diagnosed only in advanced stages. While screening the general public has not been found to be effective, high-risk groups might benefit from such an intervention. A recent series of scientific research studies have examined protocols for identifying BRCA1 and BRCA2 gene mutations found in high-risk populations indicating an inherited susceptibility to breast and ovarian cancers. Analysis of these genes has revealed more than 100 pathogenic mutations in each. The mutations are generally "private," that is, unique to a single family.

One high-risk population group, Ashkenazi Jews, have been found to have three recurrent mutations: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. The presence of these recurrent mutations may explain 30% of breast cancer in Ashkenazi Jewish women under age 40 and 100% of women with both breast and ovarian cancers. Since family history is difficult to track among Ashkenazi Jews, the Shaare Zedek Medical Center examined a series of Ashkenazi women with ovarian cancer to determine how the gene mutations contributed to their disease.

A total of 29 Ashkenazi women were included in the study. Six of the women had breast and ovarian cancer; 23 had ovarian cancer only. The patients were recruited for the study from September 1995 through May 1996. All the patients were alive at the time of this study, regardless of the time of diagnosis. Each participant gave an informed consent and received genetic analysis.

The results: All six women with both breast and ovarian cancers had one of three recurrent mutations in equal frequencies. Three of the six women had no family history of the disease. The study also revealed that a breast cancer diagnosis always preceded the appearance of ovarian cancer. Of the women with ovarian cancer only, 11 of the 23 were found to carry the mutated genes. Of that group, four had a family history of ovarian cancer, four had at least one relative with the disease, and three had no family history of ovarian cancer whatsoever.

Conclusion: Dr. Beller and his team concluded that given the high proportion of ovarian cancer in Ashkenazi Jews, a screening intervention is recommended to provide additional information to the overall population of this group, regardless of family history.

The Society of Gynecologic Oncologists (SGO) is a non-profit, international organization made up of obstetricians and gynecologists dedicated to the prevention, detection, and cure of female cancers. Internet: WWW.SGO.org. Gynecologic Oncology is published by Academic Press.

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Editor's Note: For the full abstract or questions, or an interview with a gynecologic oncologist regarding this study, contact Johanna Spangenberg at (703) 527-7424.