Heriditary Breast cancer

Summary:

30yr old lady left breast cancer with 3 second degree relatives with breast and ovarian cancer history

Heriditary Breast cancer

drbalunair 10 Jun 2010 16:59

Dear all,

I wish to present the case of a 30 yr old lady for your opinion.

She was detected to have a left breast lesion on a mammo done when she presented with complaints of pain left breast. Suspecting a benign lesion a WLE was done which was reported as

Left axillary breast tissue with 2 nodules (0.7 cm each) of invasive ductal carcinoma, Grade 2 - multifocal.
Lymphovascular tumour emboli present.
ER status rich and PR positive.
Hercept test- 0 to 1+.
Margins of specimen are involved by the tumour.

Metastatic work up including a Bone scan was negative.
Opposite breast mammo shows a 4mm lesion ? benign

She has strong family history suggestive of HBOC
The family tree is given below.

Questions:

1. Is there a role of conservation or is mastectomy safer?
2. Role of risk reduction surgery or suggest chemoprevention as she is HR positive
3. In case we do proceed with bilateral mastectomy is there a role for tamoxifen. In such case should we stop it at 5 yrs?
4. What would be the role of salpingo oopherectomy , either prophylactic and or adjuvant?
5. Is BRCA testing required before we proceed, if so should it be a screening for common mutations or full gene sequencing should be done? It will take at least a months from what I have enquired. Can u suggest places where it is done ?
6. Would it be overkill if we do bilateral mastectomy and salpingo oopherectomy considering she may be BRCA positive ?

Dr Balukrishna Sasidharan MD DNB DMRT
Assistant Professor
Dept. of Radiation Oncology- unit I
Christian Medical College Vellore
Tamil Nadu 632004
India
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Re: Heriditary Breast cancer

Dr Nilesh Mahale 11 Jun 2010 11:17

Questions:

1. Is there a role of conservation or is mastectomy safer?
This is a case of multicentric tumour in a lady with family history of HBOC. Hence better to go for prophylactic mastectomy

2. Role of risk reduction surgery or suggest chemo
prevention as she is HR positive
Tamoxifen is an effective option

3. In case we do proceed with bilateral mastectomy is there a role for tamoxifen. In such case should we stop it at 5 yrs?
We don't have seperate evidence addressing duration of tamoxifen in cases of HBOC hence we should gine tam for 5 yrs as of now

4. What would be the role of salpingo oopherectomy , either prophylactic and or adjuvant?
6. Would it be overkill if we do bilateral mastectomy and salpingo oopherectomy considering she may be BRCA positive ?
Theoritically Bilateral salpingo oophorectomy and bilateral mastectomy offer survival advantage. But the acceptance level in a 30 yr old lady can be a problem
Another interesting point is bilateral o'ctomy makes her postmenopausal although iatrogenecally. Should AI be better than tamoxifen?

5. Is BRCA testing required before we proceed, if so should it be a screening for common mutations or full gene sequencing should be done? It will take at least a months from what I have enquired. Can u suggest places where it is done ?
Dr Rajiv Sarin runs a Cancer Genetics Clinic in Tata Memorial Hospital with BRCA testing facility. He can guide you on this aspect. Our own Dr Supriya Chopra was also a active participant in the clinic

Re: Heriditary Breast cancer

Ashwini Budrukkar 11 Jun 2010 17:02

I agree with Nilesh on all the other points except 1. There may be increased risk of recurrence in HBC patients especially with multifocal but that does not necessarily mandates mastectomy.BCT still may be considered. I am not sure of contralateral prophylactic mastectomy as well.

Re: Heriditary Breast cancer

Rohit Malde 11 Jun 2010 20:46

This seems to be a very complicated scenario with so many options and one which potentially can have quite an adverse psychological impact on this young lady.

1. First of all, she has positive margins after WLE and she has multifocal disease.
You need to go back to your surgeon and ask for further WLE and/or consider mastectomy if patient would prefer that.
In that scenario if mastectomy done, no need for RT.
If further WLE done,then Std RT required.
If margins were only focally positive, you may want to give a higher boost dose and avoid WLE.

As Ashwini mentioned, BCT is an option this is based on the fact that relative to age-matched controls with localized breast cancer who are not mutation carriers, the rate of local failure at five years or less is no higher in mutation carriers, and there does not appear to be a higher rate of acute or chronic radiation-associated complications in carriers.

http://www.ncbi.nlm.nih.gov/pubmed/15558796
http://www.ncbi.nlm.nih.gov/pubmed/9626202

2. Before considering any prophylactic procedures, it is important to do BRCA testing of course.

She then needs to be very carefully counselled in genetics clinic ideally with regards to
either prohylactic contralateral mastectomy + / - BSO OR Intensive surveillance.

I m not sure of the theoritical survival advantage Nilesh is talking about, but certainly it reduces the risk of CANCER by over 90% as demonstrated in prospective studies.

http://www.informaworld.com/smpp/content~content=a713998959&db=all

3. But as Nilesh rightly mentioned, acceptance level in a 30 yr old lady can be a problem, hence other options needs to be offered to this young lady ie Intensive screening. Of course you will have to inform this lady of the increased rate and late time course of ipsilateral second primary breast cancers (which predominate rather than local recurrences) with this.

SCREENING
Monthly breast self-examination
Clinical breast examination every 3 months
Annual mammography and breast MRI screening
Twice yearly ovarian cancer screening with ultrasound and serum CA-125 levels.

Please confirm this from most uptodate ASCO guidelines.

4. With regards to BSO, she has a daughter. The family need to be carefully counselled on whether they have completed their family or would prefer further expansion. Then the risk of premature menopause and its mgt via gynecologist.

This is quite a lot of information and taking for a young women who has just been diagnosed with breast cancer. Decision making is not that easy and straight forward. She may require multiple consultations in a multidisciplinary setting with the surgeons, gynecologists etc. A shared decision making process needs to be lead by an oncologist.

5. Lastly, of course this lady needs Tamoxifen for at least 5 years to begin with. There is of course some evidence for extended use of tamoxifen in this lady from ATLAS data.
Dr Balukrishna, why do you prefer to use the word " chemoprevention " in this lady.
This lady has a hormone sensitive breast cancer —- so treat it with hormones. Simple………
You would nt use AI in premenopausal women. However,if this lady has BSO….then maybe.

I believe chemoprevention is for women who have not been diagnosed with cancer, but apparently are at a high risk of developing one.

I guess in this forum,we can only talk about the 30 yr old patient, management of her 2 year old daughter is completely out of scope and a completely new chapter to be written.

Re: Heriditary Breast cancer

Rohit Malde 12 Jun 2010 02:25

I m surprised all these discussions with the patient have already been done.
It makes your life much more easy if she is a medical colleague.

She has agreed for B/L mastectomy that is fine.
You have discussedand put your points for and against BSO.

At the end you have to respect the patients wishes as long as she understands the risks and benefits.
You should be happy to offer her some ovarian screening inthat scenario.

Of course you can consider extended adjuvant hormones beyond 5 years.