BRCA1 and BRCA2

AlaskaAngel · Posted: Fri May 19, 2006 2:29 pm Post subject: BRCA testing

Well, I'm living proof that you can have an extensive family history and still not be BRCA positive. I just got my results, and they are negative. See my family history below. (In addition I have a first cousin who has had bc too.)

AlaskaAngel
_________________
Dx Dec 2001 at age 50
Lumpectomy Jan 2002, 1.6 cm IDC plus some DCIS
Node neg
ER+, PR+, HER2+++
CAF x 6, 35 rads+boost
NED
Tamoxfen 1 3/4 yrs
In 2 clinical trials
bc for mom and 1 sis and 1 aunt and 1 granny
ovarian cancer for 1 aunt

mssue · Posted: Sun Jul 23, 2006 2:33 pm Post subject: Re: Genetic Testing

Hi Again,

Sue here I just went in last week and met with my counselor again,this time for the results.I was BRCA1 sequencing 5-site rearrangement panel-result No Mutation Detected - BRCA2 sequencing results E2663V Interpretation Uncertain Significance - It goes on to say that the BRCA2 variant E2663V results in the substitution of valine for glutamic acid at amino acid position2663 of the BRCA2 protein. Variants of this type may or may not affect the function of the protein encoded by the gene in whichit is found.Therefore, the contribution of this variant to the relative risk of Breast or Ovarian Cancer cannot be established solely from this analysis.

In speaking with the counselor, out of thousands tested, the number of previous observations of this variant in unrelated families, only 11 people have this same result. She said they do not have enough evidence at this point in order to give me a positive or negative result,but that they are constantly testing and when they have enough information to make a decision I will be notified and my results could change w/positive-I would have more options or negative-that would really be great for me. I really deep down know I will have cancer again some day,because of family history, it would be wonderful to be able to head it off. For now I just want to live and grow,forget pain and anxiety-my Sister just stopped taking her chemo they wanted her to take it for 12 months,she has had 1 and can't take anymore-I spoke with her last night and the Doctor told her the other day he felt something in her left side!!!!!!How can that be there isn't anything left-her gallbladder,ovaries ,uterus everything is gone she had 6 treatments of Carboplatinum and Taxol-3 before surgery and 3 after.They said the chemo killed all of the cancer except a little bitty small peice that was dying off anyway and that was after only 3 treatments. Sorry to ramble she'll find out next week about the CA125 and maybe get a CT next month. I can't help but worry-she's my Sister.Sometimes I just want to throw my hands up and forget life but I can't-I just can't .Sorry sorry sorry I'm still rambling-If I ever have my results changed I'll post.
_________________
Sue
Age-44
DX-8/29/2003
Stage 1 - ER/PR-,HER2-NU+
Infilterating Ductal Carcinoma
Modified Radical Mastectomy/Left-side
4 Rounds of A/C-completed 1/2004

AlaskaAngel · Posted: Tue Jul 25, 2006 9:38 pm Post subject: BRCA testing

Thanks for the detailed reply, Sue. The genetic testing company also indicates on my test results that if they ever do figure out that I have some genetic connection they will notify me.

Thought you might be interested in this, so will post for you:

http://professional.cancerconsultants.com/oncology_main_news.aspx?id=36601

"Current Testing for BRCA1-2 Fails to Detect All Mutations

Researchers from the University of Washington have reported that current commercial genetic testing for BRCA1 and BRCA-2 will fail to detect 17% of existing mutations. The details of this study appeared in the March 22/29 issue of the Journal of the American Medical Association.
It has been estimated that, in women, a BRCA1 or BRCA2 is associated with a lifetime risk of 80% of developing breast cancer compared to 10% for all women. Women who test positive for BRCA1 or BRCA2 often opt for prophylactic oophorectomy and/or mastectomy. Patients with a family history of breast cancer undergo commercial genetic testing for five mutations that identify BRCA1-2. If a test is negative, it is assumed that a woman is not at a significantly increased risk for developing breast and ovarian cancer. However, there are other mutations that are associated with an increased risk of breast and ovarian cancer that are not detectable by current commercial testing.

The current study involved 300 women with four or more cases of breast or ovarian cancer in the family. The goal was to screen patients for additional mutations who had tested negative on commercial testing. They found that 17% of women testing negative on the commercial test had germ-line mutations associated with an increased risk of developing breast or ovarian cancer on further testing. Twelve percent were positive for genomic rearrangements for BRCA1 or BRCA2, 5% were positive for CHEK2 mutations, and 1% were positive for TP53.

These authors suggest that commercial testing is inadequate in high-risk families and that a negative test is uninformative for at least 17% of such high-risk women. They also suggest that this could change as more and more breast cancer susceptibility genes with varying penetrances are being identified.

Comments: This is very provocative data. In essence, patients with a strong family history of breast or ovarian cancer cannot be reassured that they are not at increased risk by a current negative test. Only positive tests would appear to have predictive value for an individual woman with a strong family history of breast or ovarian cancer."
_________________
Dx Dec 2001 at age 50
Lumpectomy Jan 2002, 1.6 cm IDC plus some DCIS
Node neg
ER+, PR+, HER2+++
CAF x 6, 35 rads+boost
NED
Tamoxfen 1 3/4 yrs
In 2 clinical trials
bc for mom and 1 sis and 1 aunt and 1 granny
ovarian cancer for 1 aunt

mssue · Posted: Wed Jul 26, 2006 7:39 am Post subject: brca1-brca2

Comments: This is very provocative data. In essence, patients with a strong family history of breast or ovarian cancer cannot be reassured that they are not at increased risk by a current negative test. Only positive tests would appear to have predictive value for an individual woman with a strong family history of breast or ovarian cancer."

Hi AA,
Hope You are well-good to hear from You.I totally agree with that last statement-so what do we do- we continue on trying to find the answers.We test, we wait but in reality our answers lie before us in our Families History. I hope You are enjoying Your Summer-I am,I have enjoyed spending time with my Daughter(14) but I think I will equally enjoy time alone when school starts again in a few weeks.

Thank You for always tuning in - do You even realize the vastness of Your knowledge? Just wanted You to know I really appreciate it-God Bless You Exclamation

_________________
Sue
Age-44
DX-8/29/2003
Stage 1 - ER/PR-,HER2-NU+
Infilterating Ductal Carcinoma
Modified Radical Mastectomy/Left-side
4 Rounds of A/C-completed 1/2004

AlaskaAngel · Posted: Fri Jul 28, 2006 2:10 pm Post subject: Sharing What We Learn

Hi Sue,

Thanks for the friendly and supportive message. Sharing what we learn is so healing. I don't think I know nearly enough but that is because there is so much to learn...

Being both BRCA 1 as well as BRCA 2 would be very challenging to the mind and soul.

I'm doing well in terms of cancer, less well in terms of intimacy, but all in all life is good.

I miss Leo's posts. What a fine person he was to at least set up some way to help us all.

AlaskaAngel

AlaskaAngel · Posted: Thu Aug 03, 2006 12:34 pm Post subject: Radiation risks for BRCA's

Chest X-ray increases cancer risk in BRCA1/2 carriers

Reuters Health
Posting Date: August 2, 2006

Last Updated: 2006-08-02 17:13:05 -0400 (Reuters Health)

NEW YORK (Reuters Health) - Researchers with the International BRCA1/2 Carrier Cohort Study (IBCCS) report that exposure to chest X-rays has a "relatively large effect" on breast cancer risk in mutation carriers.

Studies have shown that young girls who receive repeated X-rays for assessment of scoliosis have an increased risk of breast cancer. Dr. David Goldgar of Case Western Reserve University in Cleveland, Ohio, and colleagues retrospectively evaluated 1601 women who were either BRCA1 or BRCA2 carriers and were exposed to routine, occasional and conventional chest X-rays for screening or diagnosis to assess risk of breast cancer.

These women already have a high risk of breast cancer without the possible risk increase conveyed by chest X-rays.

The IBCCS members found that any reported exposure to chest X-rays was associated with a hazard ratio (HR) of 1.54. Women 40 years old or younger had an even higher risk of breast cancer after chest X-ray exposure with an HR of 1.97. Women born after 1949 had an HR of 2.56. BRCA1/2 carriers exposed to chest X-rays before age 20 had the highest risk, with an HR of 4.64.

The IBCCS researchers report their latest findings in the July 20th issue of the Journal of Clinical Oncology. The investigators write that "diagnostic ionizing radiation exposure from chest X-rays may be associated with significant breast cancer risk among women" with the BRCA1 or BRCA2 germline mutation.

A significantly increased risk of breast cancer in BRCA1/2 carriers occurred at radiation doses considerably lower than levels associated with increased risk in other populations (largely noncarriers).

The average dose was typically low, Dr. Goldgar's group notes. The total dose received by women who underwent a large number of chest X-rays was "unlikely to exceed 10 mGy to 20 mGy."

The IBCCS investigators recommend a careful risk-benefit analysis of chest X-rays in young BRCA1/2 carriers, but they caution that the results still need to be confirmed and that these findings could be influenced by recall bias.

J Clin Oncol 2006;24:3361-3366.

krazeydazey · New User Joined: 11 Aug 2006 Posts: 7

Hello all, I am new here and am in line for genetic testing.
I am struggling at this point because there is always the chance that even if the result is -, it is possible there is simply a gene not yet discovered.
I already have a wierd feeling on what I think the results will be, I have also had people saying I shouldn't get it done because of insurance issues. I am not sure what the policies are for Canada but I vauguely recall reading a question about BRCA 1 & 2 when I applied for coverage.
I don't want to put the cart before the horse but I can't help feeling a little anxious.
As it stands our chances as regular people are about 1 in 9, that alone is pretty scary, but the possibility of it being even more likely then that is absolutely awful.

AlaskaAngel · Posted: Fri Aug 11, 2006 5:32 pm Post subject: Re: BRCA1 and BRCA2

Hi krazeydazey. I do think it is likely those of us who have a significant family history and still test negative just fall into a group not yet identified. I don't live in Canada but wouldn't you be less likely to end up being targeted because of the provincial health care coverages? I'm sorry you get to be in this situation too...

AlaskaAngel
_________________
Dx Dec 2001 at age 50
Lumpectomy Jan 2002, 1.6 cm IDC plus some DCIS
Node neg
ER+, PR+, HER2+++
CAF x 6, 35 rads+boost
NED
Tamoxfen 1 3/4 yrs
In 2 clinical trials
bc for mom and 1 sis and 1 aunt and 1 granny
ovarian cancer for 1 aunt

krazeydazey · New User Joined: 11 Aug 2006 Posts: 7

I have provincial care, but as our system move to become more privatized, we use extended coverage for many many things, some are private, mine is through my employer. If you have extended care (which is similar to the insurance in the US) your coverage provincially is affected, ie something a regular person may be covered for with provencial coverage is covered by the extended, eg under provincial care you are covered for one eye exam every 2 years, but as I have extended care that is who pays for my exams on their schedule.
I don't really knwo what is affected though if your are BRCA 1 or 2 +. Is it life insurance, higher premiums, less prescription coverage? Does anyone know?

AlaskaAngel · Posted: Fri Aug 11, 2006 6:30 pm Post subject: Re: BRCA1 and BRCA2

I like to encourage others to continue to talk here as it helps everyone I think. But KrazeyDazey, if you haven't been to bcans.ca try there because many there are canadian survivors. (It might be found at bca.ns.ca too.)

AlaskaAngel

krazeydazey · New User Joined: 11 Aug 2006 Posts: 7

Thanks very much AA Smile

mssue · Posted: Mon Jan 21, 2008 11:32 pm Post subject: Tested Positive...Results

Hi Everyone,

Finally,It has been awhile since I posted but I got a phone call a month or so ago...From the Cancer Research Center. My appointment is on the 31st of this month. She told me they have finally come to a conclusion...they are leaning more towards a positive on the BRCA2.Before it was inconclusive. Confused

I will post again after my appointment...

Big hugs to U all,
Stay strong!
_________________
Sue
Age-44
DX-8/29/2003
Stage 1 - ER/PR-,HER2-NU+
Infilterating Ductal Carcinoma
Modified Radical Mastectomy/Left-side
4 Rounds of A/C-completed 1/2004

brainman · Posted: Tue Jan 22, 2008 2:20 am Post subject: Re: BRCA1 and BRCA2

Hi Sue, it has been a long time since your last post. I am glad to see that you are still with us. Hope all goes well at your appointment.
_________________
Jim
Site Administrator and long-term cancer survivor
1992 Astrocytoma grade 2, left motor strip
2005 Recurrence this time said to be an Oligodendoglioma grade 3, same location.
My Story Part 1: http://cancerforums.net/viewtopic.php?p=7350
My Story Part 2: http://cancerforums.net/viewtopic.php?t=8029
Blog http://jimhawkinsport.blogspot.com/

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