This week we completed the genetic sequencing that answered two important questions:
*Should Kathy consider bilateral mastectomy?
*Should our daughter, Lara, consider early mastectomy to reduce her lifetime risk of breast cancer?
Here's how we asked the questions.
On December 20, Kathy met with Genetic Counselor Kathleen Swenson to discuss the risk of hereditary Breast Cancer. Kathleen wrote:
"Note Date: 12/20/11
BETH ISRAEL DEACONESS MEDICAL CENTER CANCER GENETICS AND PREVENTION PROGRAM
Risk of Hereditary Breast Cancer
VISIT SUMMARY: 49yo with recent dx of breast cancer. Blood was drawn today for BRCA1 and BRCA2 analysis. Results expected in 2-3 weeks.
ANCESTRY/RACE: Korean/Scottish/Irish
__ AJ _X_ non-AJ
Indication: Recent diagnosis of breast cancer; limited maternal family history.
Personal History Family History
__ None _X_ None
_X_ Breast Cancer; Age 49 __ Family Hx Breast
__ Ovarian Cancer; Age __ Family Hx Ovarian
__ Colon Cancer; Age __ Family Hx Colon
__ Other __ Family Hx Other
Risk Assessment: 49yo at age of diagnosis; premenopausal. Limited family structure on maternal side of the family limits risk assessment.
Counseling - We discussed the following issues:
_X_ Sporadic vs. hereditary cancer
_X_ Autosomal dominant inheritance
_X_ BRCA1/2 & cancer risks (breast, ovary, and other)
_X_ Risks, benefits and limitations of genetic testing
_X_ Possible Results and implications
_X_ Practicalities of testing (timing, costs)
_X_ Insurance/discrimination concerns
_X_ Testing is most informative with a known mutation in family; importance of sharing information
_X_ Testing is more informative when the first relative tested is an individual who has had cancer
_X_ Medical management options (increased surveillance, chemoprevention, and prophylactic surgery)
Implications of a Positive result (for patient and family): Management as appropriate; implications for first degree relatives.
Implications of a Negative result (for patient and family): Likely sporadic cancer. No further testing indicated at this time.
Other Notes: Kathy is a lovely woman who is an artist and owns a gallery in Boston's South End. Her husband works here at BIDMC. Kathy felt that it was important and ideal to have this information for the purpose of having a complete picture when it comes to determining her care plan moving forward. There is very little information regarding the maternal family history and limited family structure as she is an only child. We discussed testing in detail, including the issue of variants of uncertain significance. BRCA1 and BRCA2 comprehensive analysis was ordered, as was BART analysis for completeness. I will notify Kathy upon receipt of her results as well as the physicians caring for her."
This week, we received the report
"Ms. Halamka was seen previously and elected to proceed with genetic testing for BRCA1 and BRCA2. Results are NEGATIVE. No mutations were identified in either of these genes. Both comprehensive analysis and BART analysis was completed."
Thus, her cancer is environmental and not the result of specific BRCA mutations. She will not need to consider bilateral mastectomy at this time. We explained the results to our daughter and she will follow whatever best practice is recommended for standard breast cancer screening over her lifetime.
Since Kathy will lose her hair next week, we purchased a simple wig in addition to the hat and head wrap we bought last week.
Finally, Kathy has begun to have gastrointestinal symptoms . Small, frequent, bland meals work. Anything else causes abdominal discomfort and mild pain as the rapidly dividing cells in her GI tract begin to die as a result of chemotherapy.
Tomorrow, we return to BIDMC for Cycle 2 of Adriamycin/Cytoxan. Kathy was very strong and rested when she started Cycle 1. For Cycle 2, she'll be a little weaker.
Every week has its positives and negatives. Knowing that her cancer is environmental and not genetic is this week's good news for Kathy and our family.
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2 comments:
It's overly simplistic to conclude "Thus, her cancer is environmental". All you've done is exclude BRCA1&2, but there are other cancer susceptibility genes including CDH1, CHEK2, p53, etc. While these are not commonly tested in a clinical setting, they remain a possibility. It would've mire appropriate to conclude: "thus, her cancer is not the result of a BRCA mutation.
Otherwise, nice article, good way to get involved and understand your organization from the clinics on up!
John and Kathy, I am glad to hear about the negative on the genetic testing. Bill and I remember the relief that we had with the negative result. We have been through the process from mastectomy to chemo to reconstruction so if you want someone to talk to, you know how to reach us. To the comments about getting different care because you are a doctor, I say No. We had extraordinary care in LA, of course that was with insurance, but no doctor in the family. Janet and Bill
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