Ovarian Colorado
Information for Providers
Case Studies
Case 1: Angie
Female patient “Angie” presented at 41 years of age with invasive breast cancer. She had one sister age 47, who was unaffected and a brother, age 43. Another sister “Betty” who had breast cancer at age 36, was then 48 years of age. Their mother had breast cancer at age 59. She was then 69 years of age. Angie’s maternal aunt had breast cancer and a first cousin had breast cancer at age 32. There are three other maternal aunts in their mid to late 50’s with no history of cancer.
Angie was referred by her oncologist for genetic counseling. She decided to have genetic testing and a deleterious mutation was found in the BRCA 1 gene. She was encouraged to share this information with her family, which she did. Betty later came to the genetic counseling clinic and was interested in testing. She was offered more specific testing, looking for the known mutation found in Angie. The results would not be available for several weeks. Based on Betty’s past history, it seemed very likely that she carried the mutation. The genetic counselor discussed the need for ovarian cancer screening, using CA-125 and pelvic ultrasound, even though the sensitivity and specificity are not ideal. Two weeks later, the ovarian cancer screening was positive, and she had surgery. Stage 1 ovarian cancer was identified. She had her ovaries removed and followed her physician’s recommendations for treatment. Six years later she was alive and well. Her gene testing confirmed that she carried the same mutation as her sister.
Angie and her mother both decided to have bilateral salpingo-oophorectomies to help reduce their risk. The other unaffected aunts had gene testing and did not carry the mutation. The unaffected sister was also tested and does not carry the mutation. This sister reports that, while the family remains close, the fact that she is not at increased risk changed the way that she and her sisters relate to one another. Their brother should be offered gene testing, since if he carries the gene, he would be at increased risk for other types of cancer.
NOTE: This case illustrates the importance of informing other family members, as well as the need for increased surveillance in gene positive individuals.
Case 2: Mary
“Mary,” who is 41 years of age, was diagnosed with a malignant endometrial tumor at age 35. She is positive for a BRCA mutation. Her brother was diagnosed at age 46 with melanoma. There are two unaffected sisters in their late 40’s and an unaffected brother who is 53. Their mother had breast cancer at age 40 and cancer of the ureter at age 66. A maternal aunt had breast cancer at age 75 and another maternal aunt had abdominal cancer, type unknown, at age 55. The maternal grandmother had ovarian cancer diagnosed at age 64.
NOTE: This case illustrates the importance of taking a three generation pedigree.
Case 3: Jessie
“Jessie” is a 40 year old woman with no personal history of cancer, but a strong family history. Her sister had breast cancer at age 39. Her mother had ovarian cancer at age 66. Two maternal aunts had breast cancer at ages 47 and 52, respectively. Jessie is very interested in genetic testing. She does not know if anyone in her family has had gene testing, however. The genetic counselor advises her to get additional information regarding her affected relatives, and whether they had BRCA testing. Jessie learns that her sister was tested, but no mutation was identified. Since the sister has already had early onset cancer, and the family history suggests autosomal dominant inheritance, she most likely carries a different mutation. Therefore, testing for Jessie would not be informative at this time. She must still be considered to be at increased risk for both breast and ovarian cancer. Perhaps in time the novel mutation will be identified in this family, and then Jessie would be a candidate for testing.
NOTE: Some individuals will have difficulty understanding why genetic testing would be uninformative, despite a strong family history.
Case 4: Samantha
“Samantha” is 53 years of age and interested in BRCA testing, because she is concerned about her two children and their risk. She was referred by her oncologist. She is currently being treated for Stage 3 ovarian cancer, and was treated 4 years previously for breast cancer by the same physician. Her family history is significant in that her mother died of breast cancer at age 48. Her mother’s only sibling died of ovarian cancer at age 52. Samantha’s maternal grandmother died of ovarian cancer at 53 years of age. Given this history, Samantha’s risk of carrying a BRCA mutation is 45%. Her insurance company authorized testing.She proceeded with genetic testing and a BRCA 2 mutation was identified. She questioned why she was not offered testing four years prior, when she was first diagnosed with breast cancer. The genetic counselor asked if the entire family history was known to the physician, and she stated that she had informed him of the cancer in her relatives. It is unfortunate that she was not offered testing at that time.
Subsequently both of her adult children, a son and a daughter, were tested and found to be positive for the same BRCA 2 mutation.
NOTE: Patients will often be frustrated that the significance of the family history was not appreciated by their health care professionals, or that the opportunity for genetic testing was not offered.
