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Men with breast cancer
Triple negative breast cancer
Her2+ breast cancer
People with a genetic mutation linked to cancer risk
Breast cancer survivors
Women under 45
Women over 45
Healthy people with average cancer risk
Special populations: People with pancreatic cancer
|At a glance||Clinical trials|
|Pancreatic cancer and BRCA||Questions for your doctor|
|What does this mean for me?||Resources and references|
a personal story about a father and daughter with an inherited
Dr. Pamela Munster is a breast cancer oncologist at University of California, San Francisco. When she was diagnosed with breast cancer at age 48, she found that she carried a BRCA2 mutation. Women carrying BRCA2 mutations have a 45-56% risk of breast cancer and 23-31% risk of ovarian cancer by age 70. Dr. Munster had a double mastectomy as part of her treatment.
"Despite my years as a practicing oncologist—specializing in breast cancer, of all things—I was not prepared for it to come to me."
BRCA mutations may be inherited from either side of the family with the same impact - increased risk of breast and ovarian cancer. In Pamela Munster's family, her paternal grandmother Gertrud was diagnosed with breast cancer at 65. Gertrud survived her breast cancer and was diagnosed with pancreatic cancer which lead to her death in her 80's. Pamela's father voiced words of concern at her surgery they proved prophetic:
"This is just not right...This should be me, not you! You should not have to go through this at your age."
When her otherwise healthy 78-year-old father Norbert complained of stomach pains, she became concerned. She recognized that stomach pains as a potential symptom of pancreatic cancer. Knowing that she had inherited her BRCA2 mutation from Norbert, she realized he was also at increased risk of BRCA2-related cancers including pancreatic cancer. Norbert was indeed diagnosed with pancreatic cancer in 2013.
Pancreatic cancer is the fourth most common cause of cancer death. Five year survival rates are low—less than 9%—in part due to these cancers being found late. Pancreatic cancer has been called a "silent disease" because symptoms, which mimic those of more common diseases, are often not recognized until the cancer has advanced.
At the time of his pancreatic cancer diagnosis, Norbert's doctor stated that surgery was not an option due to his age and the size of his tumor. Dr. Munster, her father's self-stated "advocate and protector" asked his doctor whether treatment would be an option if they could successfully shrink the tumor. She said to her father:
"The odds are against you...But knowing you, I think you would rather go down in flames than not try at all."
They proceeded with aggressive chemotherapy knowing that side effects might be difficult to tolerate and that the treatment might not work. This tradeoff between the hope of treatment and the decrease in quality of life while enduring treatment is one that is balanced differently by each individual. Fortunately, Norbert's tumor responded to chemotherapy and in eight weeks was reduced to half its original size when it was surgically removed.
The responsiveness of Norbert's tumor to chemotherapy, while surprising, may reflect the biology of the BRCA2 mutation. Because cells with BRCA mutations lack functional BRCA protein, their ability to repair DNA damage, including damage in tumor cells that is caused by chemotherapy, is impaired. This poor DNA repair can also lead to other mutations which contribute to increased cancer risk in people with BRCA mutations.
The advent of new treatments like PARP inhibitors for maintenance of BRCA cancers holds promise. PARP inhibitors work by inhibiting a protein that is involved in DNA repair, and in doing so, may help to kill cancer cells. PARP inhibitors are currently approved for treatment of metastatic breast and ovarian cancer but not yet for pancreatic cancers. Several ongoing clinical trials are enrolling participants to test the usefulness of PARP inhibitors (Lynparza, Rubraca, Veliparib, and Niraparib) for treating pancreatic cancer .
Five years after his diagnosis, Norbert is still alive. However, his pancreatic cancer returned two years following his surgery. He underwent more chemotherapy and radiation treatments and is now living with metastatic cancer.
As Dr. Munster points out:
"Metastatic cancer is an ongoing battle. It requires steadfast support, resources, stamina, and, most of all, courage and hope. There are endless setbacks and bad days. But seeing my father emerge from his struggle, my own blue eyes meeting his, I am proud. We are now connected by more than blood and DNA."
She notes that her father's life long habits of exercise and good diet were important. While she does not suggest that these lifestyle choices impacted his cancer, his good physical health before chemotherapy did mean that he was in a better state to endure the difficulties of cancer treatment.
For more about Pamela and Norbert Munster's cancer journey, you can read Dr. Munster's book Twisting Fate: My Journey with
BRCA - From Breast Cancer Doctor to Patient, and Back.
People who test positive for an inherited mutation in BRCA2, PALB2, STK11 and other genes, have an increased risk of pancreatic cancer. There are no reliable and proven tests for early detection of pancreatic cancer. While experts do not have guidelines for pancreatic screening for everyone at increased risk, there has been some research looking at a procedure known as endoscopic ultrasound to find abnormalities in the pancreas of high risk people. Endoscopic ultrasound (EUS) involves the doctor passing a tiny ultrasound into the patient's stomach to get a closer look at their pancreas. EUS requires anesthesia. Some cancer centers offer endoscopic ultrasound screening for people with an inherited mutation and a family history of pancreatic cancer although in many cases the procedure is only available through a research study.
Knowing the signs and symptoms of pancreatic cancer may be helpful. Symptoms include:
NCCN guidelines recommend genetic testing for inherited gene mutations in people diagnosed with pancreatic cancer. Genetic test results may affect treatment recommendations and be useful information for your family members.
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American Cancer Society: Pancreatic Cancer
FORCE Information: Genes associated with hereditary cancers
FORCE Information: Pancreatic cancer (in HBOC)
FORCE XRAYS category: Cancer treatment
FORCE XRAYS category: Family and Caregivers
FORCE XRAYS category: Genetic testing
FORCE XRAYS category: Risk for other cancers
Munster P, "My Father's Fight Against the Breast-Cancer Gene." The Wall Street Journal. September 28, 2018.
Munster P. Twisting Fate: My Journey with BRCA—from Breast Cancer Doctor to Patient and Back".