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Geisinger Genomics Medicine researchers assess ovarian cancer gene study

CONTACT:  Mike Ferlazzo: 570-214-7410, 515-450-2908 (c),
Feb. 25, 2014


DANVILLE, Pa. – A study published this week in the Journal of Clinical Oncology, led by University of Toronto researchers, reports that healthy women with specific inherited gene mutations (BRCA1 and BRCA2) who protectively had their ovaries and fallopian tubes removed reduced their risk of ovarian, fallopian tube, or peritoneal cancer by 80 percent, and their overall risk of death by 77 percent.

Researchers from Geisinger Health System’s Genomics Medicine Institute say the study’s findings are only applicable to a small number of women, since less than 1 percent of the population carries a mutation of the BRCA1 or BRCA2 genes. And currently, the National Comprehensive Cancer Network (NCCN) recommends that these women have an oophorectomy ideally between 35 and 40 years, or after they have completed child bearing.

“When a woman with one of these mutations has a family member diagnosed with ovarian cancer in their 30s, however, we encourage her to consider having an oophorectomy at an earlier age,” said Audrey Fan, MS, LGC, oncology genetic counselor and research coordinator in Geisinger’s Genomic Medicine Institute. “This study will invite a reconsideration of these recommendations.”

According to Fan, people who should consider genetic counseling and/or testing include:

  • Women diagnosed with breast cancer at age 50 or younger
  • Individuals with a personal or family history of male breast cancer, ovarian cancer or two separate primary breast cancers in the same individual
  • Individuals who have a parent or sibling diagnosed with breast cancer before the age of 45
  • Breast or ovarian cancer occurring in multiple generations in the same side of your family (ex: multiple relatives with breast cancer on your father’s side of the family)

“There are other genes beyond the BRCA 1/2 genes that we associate with hereditary breast and ovarian cancers, so genetic counseling can help to determine the most appropriate genetic test,” Fan said. “Geisinger’s Cancer Genetics Risk Assessment Clinic has board-certified cancer genetic counselors who can evaluate your risk to carry one of these genetic mutations and discuss your options for genetic testing.”

The study is a reminder that one of the most important aspects of comprehensive preventative health care is the collection and documentation of your family health history. Geisinger has been encouraging local residents to collect their family and medical history through its Weis Markets/Geisinger Family History Campaign ( Geisinger recently expanded the MyCode™ Community Health Initiative with a commitment to perform genetic sequencing on 100,000 research participants. This combination of sequence data and Geisinger’s electronic health records is one of the nation’s largest studies on the genetic determinants of human disease.

“We’re talking about collecting genetic data from 100,000 people through this study, so there will be a significant number of people within the system who will learn they carry a genetic change that puts them at an increased risk for cancer or other preventable conditions,” said Andy Faucett, MS, CGC, director of policy and education in Geisinger’s Genomics Medicine Institute. “This information could possibly save their lives and the lives of their relatives.”

About Geisinger
Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record, and the development of innovative care models such as ProvenHealth Navigator® and ProvenCare®. As the nation’s largest rural health services organization, Geisinger serves more than 2.6 million residents throughout 44 counties in central and northeastern Pennsylvania. The physician-led system is comprised of more than 20,800 employees, including a 1,000-member multi-specialty group practice, eight hospital campuses, two research centers and a 450,000-member health plan, all of which leverage an estimated $6.1 billion positive impact on the Pennsylvania economy. The health system and the health plan have repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit, or follow the latest Geisinger news and more on Twitter and  Facebook.

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