A member presented a medical case:
Is a radical mastectomy needed with this family history?
A 36 yr old woman whose mother was diagnosed with breast cancer at age 34 and a PALB2 mutation wonders if mastectomy is needed to lower her risk of breast cancer.
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Patient demographics
Gender
Age
36
Ethnicity
White or Caucasian
Occupation
Lab Technician
Chief complaint or problem to solve
Mutation in the PALB2 gene; mother diagnosed with breast cancer at age 34, died at 36 years with different cancers in each breast; maternal grandmother had BC after age 50; survived; details not known except no BRCA1/2 mutation; no other know breast/ovarian/pancreatic or other cancer on mother's side
Case history
Yearly mammograms starting at age 30; now with genetic diagnosis yearly MRI added on

PMH: 2007 upper extremity DVT 2012 UEDVT other arm Not related to gene mutation that is known Suffer anxiety and occasional depression
Meds: Effexor, seraquil, clonazapam, omega 3,
Allergies:Moderate intolerance to eggs, dairy, gluten
Other tests: Recent low amount of protein in urine. Kidney function normal ( blood test confirms) -August, October 2015 Yearly mammograms since 2009 have shown no abnormality other than dense breasts and cysts (followed up to be benign)
Xrays:
Procedures:
Purpose of case discussion
Other: I am seeing a genetic councillor; what is the medical opinion on radical treatment(preventative mastectomy) vs higher screening?
Supplemental Materials

Dr. Devon Webster
Internal Medicine - Oncology
2 doctors agree

In brief: No!

Although the PALB2 mutation increases risk, preventive mastectomy is not recommended.
There are other ways to decrease your risk including taking raloxifene or tamoxifen. See a medical oncologist to discuss this (and a genetic counselor! )

In brief: No!

Although the PALB2 mutation increases risk, preventive mastectomy is not recommended.
There are other ways to decrease your risk including taking raloxifene or tamoxifen. See a medical oncologist to discuss this (and a genetic counselor! )
Dr. Devon Webster
Dr. Devon Webster
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1 comment
Dr. Ettienne Myburgh
PALB2 was considered a moderate risk gene, but recently new data suggests that it should be managed like BRCA mutations. Risk reduction surgery is aimed at reducing the risk of developing breast cancer but also to maintain quality of life lost when patients require treatment for breast cancer. She needs to see someone experienced in dealing with hereditary breast cancer.
2 doctors agree

In brief: It depends

The genetic councilor should be able to tell the chance of you having breast cancer in the future based on your entire family tree and the exact type of mutation.
It would probably be around 40-60%. Higher screening is an acceptable option if you can get it regularly enough and be aggressive as soon as it is found. It is a difficult decision to make. There is also, anti-hormonal therapy that would reduce your risk of breast cancer. I would make the decision based on your lifestyle an access to healthcare. If you can have adequate and reliable follow ups then may be do that. If you are too nervous about it, then have the mastectomy. It is a difficult decision to make and needs to be tailored to you personally.

In brief: It depends

The genetic councilor should be able to tell the chance of you having breast cancer in the future based on your entire family tree and the exact type of mutation.
It would probably be around 40-60%. Higher screening is an acceptable option if you can get it regularly enough and be aggressive as soon as it is found. It is a difficult decision to make. There is also, anti-hormonal therapy that would reduce your risk of breast cancer. I would make the decision based on your lifestyle an access to healthcare. If you can have adequate and reliable follow ups then may be do that. If you are too nervous about it, then have the mastectomy. It is a difficult decision to make and needs to be tailored to you personally.
Dr. Fateh Entabi
Dr. Fateh Entabi
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Dr. Jeff Livingston
Obstetrics & Gynecology
2 doctors agree

In brief: You need testing

If your mother was a BRCA carrier then it is important that you get tested.
Since you know that she has a PLAB2 mutation then your testing can even be more precise. If you are a carrier then see an experienced breast surgeon. They can calculate your lifetime risk as well as your 5 year risk to help you make your decisions regarding mastectomy and ovary removal

In brief: You need testing

If your mother was a BRCA carrier then it is important that you get tested.
Since you know that she has a PLAB2 mutation then your testing can even be more precise. If you are a carrier then see an experienced breast surgeon. They can calculate your lifetime risk as well as your 5 year risk to help you make your decisions regarding mastectomy and ovary removal
Dr. Jeff Livingston
Dr. Jeff Livingston
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2 doctors agree

In brief: Woud Work

With a mutation and a family history of breast cancer, having a bilateral prophylactic mastectomy would definitely lower the risk.
The big question is how much risk would it lower and is it NEEDED? The needed is a question you will have to answer after you have discussed it and all your risks with your surgeon. Definitely would decrease the risk, but without full history, hard to say is needed.

In brief: Woud Work

With a mutation and a family history of breast cancer, having a bilateral prophylactic mastectomy would definitely lower the risk.
The big question is how much risk would it lower and is it NEEDED? The needed is a question you will have to answer after you have discussed it and all your risks with your surgeon. Definitely would decrease the risk, but without full history, hard to say is needed.
Dr. Scott Grover
Dr. Scott Grover
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Dr. Marlan Schwartz
Obstetrics & Gynecology
2 doctors agree

In brief: Is an option

This is a complicated issue and personal choice.
There should be a percentage risk that you'd develop cancer and that would help to direct you. If it's, say, 80%, I would seriously consider removal. The options really include bilateral mastectomy vs. close surveillance, which should include MRI of the breast, breast exams and mammograms on more frequent basis than yearly, which it seems you're doing now.

In brief: Is an option

This is a complicated issue and personal choice.
There should be a percentage risk that you'd develop cancer and that would help to direct you. If it's, say, 80%, I would seriously consider removal. The options really include bilateral mastectomy vs. close surveillance, which should include MRI of the breast, breast exams and mammograms on more frequent basis than yearly, which it seems you're doing now.
Dr. Marlan Schwartz
Dr. Marlan Schwartz
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Dr. Edward Sung
Obstetrics & Gynecology
1 doctor agrees

In brief: Stop all medications

sorry that you have unusual unknown forms of metabolic, immune genetic defect No-one knows too much of it you can only save yourself by cut out all the meds.
" If u don't take, you don't die--then don't take" especially the nutritional supplements like vitamin E, omega3 etc and immune suppressants they feed cancer cells before feed regular cells must have very healthy life style and don't respond to stress, stay happy do breast self exam and MRI instead X-ray worthless good luck

In brief: Stop all medications

sorry that you have unusual unknown forms of metabolic, immune genetic defect No-one knows too much of it you can only save yourself by cut out all the meds.
" If u don't take, you don't die--then don't take" especially the nutritional supplements like vitamin E, omega3 etc and immune suppressants they feed cancer cells before feed regular cells must have very healthy life style and don't respond to stress, stay happy do breast self exam and MRI instead X-ray worthless good luck
Dr. Edward Sung
Dr. Edward Sung
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Dr. Nir Hus
Surgery
1 doctor agrees

In brief: Breast cancer.

This a complex question that is more appropriate for a direct face to face discussion.
There are a number options that are valid. But for starters you need to get tested.

In brief: Breast cancer.

This a complex question that is more appropriate for a direct face to face discussion.
There are a number options that are valid. But for starters you need to get tested.
Dr. Nir Hus
Dr. Nir Hus
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Dr. Peter Baumann
Obstetrics & Gynecology
1 doctor agrees

In brief: Close supervision

www.
Breastcancer.org http://www.nejm.org/doi/full/10.1056/NEJMoa1400382?query=featured_home& By age 50 y/o 14 % of women with PALB2 mutation will have been diagnosed with, not died of, breast cancer, by 70 y/o that number is 35 %. A 34 y/o today is 14 and 36 years, respectively, away from those targets. We will have better diagnostic tools and better treatment by then. No data exists, whether women with prophylactic mastectomy do better. Advice: Close observation with MRI (not mammogram: radiation) and ideally follow up at a cancer center that takes care of other women with PALB2 mutation.

In brief: Close supervision

www.
Breastcancer.org http://www.nejm.org/doi/full/10.1056/NEJMoa1400382?query=featured_home& By age 50 y/o 14 % of women with PALB2 mutation will have been diagnosed with, not died of, breast cancer, by 70 y/o that number is 35 %. A 34 y/o today is 14 and 36 years, respectively, away from those targets. We will have better diagnostic tools and better treatment by then. No data exists, whether women with prophylactic mastectomy do better. Advice: Close observation with MRI (not mammogram: radiation) and ideally follow up at a cancer center that takes care of other women with PALB2 mutation.
Dr. Peter Baumann
Dr. Peter Baumann
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Dr. Rakesh Patel
Radiation Oncology
1 doctor agrees

In brief: Higher risk but not like BRCA

I am glad that you are seeing a GC as this area is evolving rapidly.
PALB2 is a high-risk mutation but its risk is dependent on your family history and age. Your risk of lifetime breast cancer will be significantly higher than the average population (estimated 30-35% versus 12%). This is less than BRCA which is as high as 60-80%. Thus, bilateral mastectomy is a choice and not as strongly rec for PALB2. Surveillance should follow high-risk guidelines including MRI.

In brief: Higher risk but not like BRCA

I am glad that you are seeing a GC as this area is evolving rapidly.
PALB2 is a high-risk mutation but its risk is dependent on your family history and age. Your risk of lifetime breast cancer will be significantly higher than the average population (estimated 30-35% versus 12%). This is less than BRCA which is as high as 60-80%. Thus, bilateral mastectomy is a choice and not as strongly rec for PALB2. Surveillance should follow high-risk guidelines including MRI.
Dr. Rakesh Patel
Dr. Rakesh Patel
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Dr. Sewa Legha
Internal Medicine - Oncology
1 doctor agrees

In brief: You are doing fine

You are already under good supervision which includes proper genetic counseling in terms of future testing or any active intervention.
Annual breast physical examination along with annual MRI of both breasts to screen for early breast cancer would be adequate in my view. I do not recommend risk reduction mastectomy except in folks with BRCA mutation. You should complete your family(have children, if desired, before the age of 40 years).

In brief: You are doing fine

You are already under good supervision which includes proper genetic counseling in terms of future testing or any active intervention.
Annual breast physical examination along with annual MRI of both breasts to screen for early breast cancer would be adequate in my view. I do not recommend risk reduction mastectomy except in folks with BRCA mutation. You should complete your family(have children, if desired, before the age of 40 years).
Dr. Sewa Legha
Dr. Sewa Legha
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