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Feb 11, 2008 03:38PM
Mar 19, 2008 01:10PM
Gerber, how horrible for your friend. So incredibly tragic, when she obviously tried hard to avoid this dastard disease. How difficult this must be for you, also.
The percentage often quoted for BC after preventive mastectomy is about 1%. We all know all breast cells are not removed so potential for BC remains. I don't know what her circumstances were, perhaps she was very high risk. I hope you remember daily we are all different from one another, and that your personal pathology report came back without cancer.
Prophylactic mastectomy(s) continues to be vigorously debated and actively investigated, with one obvious goal being to try to minimize outcomes such as your friends. Recent statistics from SEER data reveal American women continue to turn to prophylactic mastectomy at increasing rates, which has puzzled oncologists, breast surgeons and advocacy groups themselves. Recently I read a news report suggesting women need to be better educated on this topic, and suggesting the procedure is turned to out of emotion. Of course we high risk patients, as well as breast cancer patients have our own opinions on the topic which do not seem to get heard in a public forum. This would be a great thread to discuss on it's own, and may give the Experts who read this site some much valued personal input.
I am reposting one write up on BRCA genetics I did for our board in 2007 and one new 2008 abstract on MRI use during this procedure. Hope these help on this discussion.
1. "For about a decade, commercial BRCA1 and BRCA2 gene testing has been available, using DNA from one's blood and performing a "full sequence" DNA test, looking for genetic alterations in these two tumor suppressor genes which have be associated with hereditary breast and ovarian cancer. Yet specialists have known that looking at the sequence, or the genetic code, of these genes does not explain the underlying cause of cancer in some families.
In the March 22, 2007 issue of the Journal of the American Medical Association, a study was published looking at 300 breast-cancer patients who also had four or more cases of breast or ovarian cancer in their family, and who had negative results with the standard, full sequence BRCA test. The researchers found that mutations in BRCA1 and BRCA2 genes included many individually rare gene rearrangements which were what is called "high penetrance". A highly penetrant gene will express itself almost regardless of the effects of environment, whereas a gene with low penetrance will only sometimes produce the symptom or trait with which it has been associated.
"Among patients with breast cancer and severe family histories of cancer who test negative for BRCA1 and BRCA2, approximately 12% can be expected to carry a large genomic deletion or duplication in one of these genes, and approximately 5% can be expected to carry a mutation in CHEK2 or TP53. Effective methods for identifying these mutations should be made available to women at high risk.” JAMA /07
This study suggests that there are differing types of genetic changes in the BRCA1 and BRCA2 genes, rearrangement gene changes ("genomic rearrangements") in addition to sequence gene alterations. It may help explain why some families have such high incidence of breast and ovarian cancer, yet test negative on the traditional sequence test. If you had very recent BRCA1 and BRCA2 testing, it may have included these genomic rearrangements, so best to check with your genetic counselor.
BART stands for BRACAnalysis® Rearrangement Test. BART is appropriate for women who have had full sequence analysis for BRCA1/2, have tested negative and are at very high risk (established with your genetic expert counselor based on your family tree) because these rearrangements are quite rare."
2. Cancer. 2008 Feb 6
Title: Can magnetic resonance imaging be used to select patients for sentinel lymph node biopsy in prophylactic mastectomy?
McLaughlin SA, Stempel M, Morris EA, Liberman L, King TA.
Breast Service, Department of Surgery, Memorial Sloan‐Kettering Cancer Center, New York, New York.
"BACKGROUND: Sentinel lymph node biopsy (SLNB) in the setting of prophylactic mastectomy (PM) remains controversial. In the current study, recent experience with PM was described and the value of preoperative magnetic resonance imaging (MRI) was analyzed in selecting patients for PM with or without SLNB. METHODS: Between January 1999 and January 2006, 529 patients underwent 613 PMs. Both preoperative magnetic resonance imaging (MRI) and SLNB were performed selectively at the discretion of the surgeon. RESULTS: Occult cancer was identified in 33 of 613 PMs (5%) (10 invasive and 23 ductal carcinoma in situ cases). PM with SLNB was performed in 393 of 529 patients (74%), 178 of whom underwent MRI. Of these, occult cancer was found in 6 of 178 patients (3%), all of whom had negative SLNB. Preoperative MRI was concordant with PM in 4 of 6 cases with occult carcinoma. The remaining 215 of 393 patients (55%) underwent PM with SLNB without MRI. Occult cancer was found in 18 of 215 patients (8%); 3 had positive SLNB. Overall, PM with SLNB spared 4 of 393 patients (1%) from axillary lymph node dissection (ALND). Among 136 patients undergoing PM alone, 57 had preoperative MRI. MRI detected 5 cancers and PM revealed an additional 4 occult carcinomas not detected by MRI. Overall, 9 of 136 patients (7%) undergoing PM alone were found to have occult cancer, 3 of which were invasive, raising the decision of reoperation with ALND. CONCLUSIONS: Occult cancer was identified in 5% of PMs. PM with or without SLNB spared only 4 of 393 patients (1%) from undergoing ALND, whereas PM alone identified unsuspected invasive disease in 3 of 136 patients (2%). When performed, MRI accurately ruled out the presence of an invasive cancer in the prophylactic breast, suggesting that MRI can be used to select patients for PM without SLNB. Cancer 2008. (c) 2008 American Cancer Society."
3. Adding Tamoxifen consideration for prophylaxis to this topic of preventive mastectomy(s) for completeness sake. If high risk by gene studies, might one consider Tamoxifen to further reduce one's risk? Most would say this is overkill in the absence of true pathology upon breast removal. Yet open mindedness in debate and individual circumstances is worthwhile, as we all know and deserve.
Words defy me on the pain you must feel for your friend. I am so very sorry. Thank you for posting this gut wrenching question, Gerber. Perhaps your friend might consider joining us here at breastcancer.org.
All the best to you,
It cannot be emphasized too strongly that treatment of each patient is a highly individualized matter. (FDA-approved labeling for warfarin (Coumadin) NDA 9-218/5-105)