If this is genetic why didn't it show up sooner?

Dear Ebony Eyes:

You need to have genetic testing to find out whether you have any mutations and testing may give you peace of mind.  There is no way to know if cancer is genetic unless you agree to genetic testing.  No doctor can accurately predict this information without testing.

Good luck.

kind of in the same boat Ebonyeyes.

I am 63 with negative BRCA 1 testing. I have ADH found on surgical biopsy last March. Is this what your surgeon means by precancerous ? I was told only that I am now high risk and a mx was actually discouraged so wondering why that was recommended in your case .

I recently did more genetic testing through Color Genomics. I'm still waiting on the results of this saliva test. I think it's important to get all information possible before I make major decisions like PMX

Hi EbonyEyes:

My short answer is that if either of the breast surgeons you have consulted suspected a genetic predisposition, they would have recommended that you seek genetic counseling. (This was my experience.)

Jelson has picked up on the possibility he was referring to the biology of cancer development and metastasis, which is driven by the accumulation of genetic changes or mutations, by which normal cells become cancerous, evade normal controls on cell replication, acquire the ability escape their location, and evade immune surveillance.

From other threads, your pathology report indicated that you have two areas of DCIS, and a small 3 mm area of IDC all in the same breast.

DCIS arises from the cells that line the ducts by a process of mutation. DCIS can be loosely considered a pre-cancer, because it is non-invasive. This means that the DCIS cells are still confined within the ducts. Current dogma is that DCIS is confined in the ducts and incapable of metastasis. However, the problem is that DCIS cells might acquire additional mutations over time and thereby become invasive. So surgery is being recommended.

IDC also arises from the cells that line the ducts, but it has acquired more changes and become "invasive". So it can break through the wall of the duct, and form a tumor. A very small IDC is probably a pretty new one, and is quite likely to be local only. Invasive cells can have/acquire additional mutations and abilities, such as the ability to metastasize. So surgery is being recommended.

Multi-centric disease (more than one spot) may sometimes be a contraindication for breast-conserving treatment (lumpectomy). Given the geometric location of the DCIS and IDC within the breast, if removal of all of it would probably lead to a poor cosmetic result, then mastectomy is recommended.

Genetic predisposition to breast cancer (from inherited gene mutations) is not that common:

Inherited changes in certain genes, such as BRCA1, BRCA2, or certain other genes, increase the risk of breast cancer (and sometimes other cancers as well). These changes are estimated to account for about 10 percent of all breast cancers:

http://www.cancer.gov/types/breast/risk-fact-sheet

Age at diagnosis:

A diagnosis at age 63 is probably quite close to the average age of diagnosis. In my personal opinion as a layperson, your age is not suggestive of any particular genetic syndrome, and is largely uninformative.

The prevalence of breast cancer in BRCA1/2 carriers is strongly age dependent. Thus, a diagnosis before age 50 would be one factor that may suggest the possibility of a BRCA mutation. As stated above, some BRCA carriers luck out and never get breast cancer, and some get it after age 50. This is because the mutation by itself does not cause cancer; it undermines DNA repair, predisposing a carrier to mutations (which cause cancer). Thus, a later age at diagnosis does not mean you do not have a BRCA mutation, but it is not suggestive that you have one either.

To make things more confusing, other breast-cancer associated genes might behave differently from BRCA1/2. As noted by vinrph, one recent study did not observe a similar age effect with other breast cancer-associated gene mutations. This suggests that age at diagnosis may be not a reliable indicator of possible mutation in these other genes. So a later age at diagnosis may not be inconsistent with the presence of one of these other gene mutations.

http://oncology.jamanetwork.com/article.aspx?artic...

Factors suggestive of BRCA1/2 mutation:

Regarding genetic testing, to my knowledge as a layperson, "multi-centric" disease (more than one spot of DCIS and/or IDC in the same breast) is not considered to be a strong flag for a genetic mutation.

In contrast, bilateral breast cancer is a factor (breast cancer in both breasts). The Some of the family history factors that are associated with an increased likelihood of having a harmful mutation in BRCA1 or BRCA2, include:

• Breast cancer diagnosed before age 50 years
• Cancer in both breasts in the same woman
• Both breast and ovarian cancers in either the same woman or the same family
• Multiple family members with breast cancer
• Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
• Cases of male breast cancer
• Ashkenazi Jewish ethnicity

The source of the above list and more info on BRCA1/2 can be found here:

http://www.cancer.gov/about-cancer/causes-preventi...

[Edited to add: Please see thread below for additional information about additional factors that are used in patients diagnosed with breast cancer.]

Note that the factors associated with increased chances of having a mutation in other genes are different, and may include different kinds of cancers or other medical problems.

Genetic Counseling, BRCA Testing or Multigene Panel Testing:

While genetic mutations are sometimes found in people who do not meet the established criteria for testing for BRCA or other genes, testing everyone is not feasible yet. Therefore, medical professionals use these kinds of factors to determine who should be referred for genetic counseling. A patient who is diagnosed with breast cancer at age 63, with unilateral disease, and no family history of breast cancer would probably not automatically be referred to a genetic counselor, provided that no other suspicious factors, or personal or family history of other cancers or syndromes are present.

Do you have any of the other factors above? Any personal or family history of ovarian, peritoneal or fallopian tube cancer? Any personal or family history of any other types of cancers (e.g., colon, pancreatic, etcetera)? These could change the picture.

You can ask to be referred to a genetic counselor. A counselor will have the most up-to-date information about the various breast cancer-associated genes and the cancers/syndromes associated with these genes, will review your personal and family history, and make a recommendation about testing based on current criteria. They can also explain the possible outcomes of any genetic testing, its benefits, and its downsides.

Because genetic mutations are sometimes found in people who do not meet the established criteria for testing for BRCA or other genes, some patients who do not meet the criteria still suspect a genetic problem. They wish to find out if any of the known pre-disposing genes may have contributed to their breast cancer, and they seek genetic testing anyway. You may need to confirm whether the insurer or other payor will cover such self-directed testing (maybe not). A genetic counselor is in my view essential to understanding the results of such tests, the options for enhanced screening or risk reducing actions, if any.

Hope that helps.

BarredOwl

According to this small study 42.9% of women with BRCA2 mutation had multifocal disease but ....However when further work was carried out adjusting for other variables in MLR, although multifocality was associated with a positive odds ratio of 1.87 for BRCA2 mutations it was not statistically significant (p=0.084).

downloads a PDF

Barred owl the criterea for basis of genetic testing that you refer and link to at http://www.cancer.gov/about-cancer/causes-preventi... is for women who do not have cancer

"Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person's individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2."

I still think BarredOwl is either a professional educator or scientific writer but it's ok if she wants to stay anonymous: just keep providing us with information and food for thought! Inks is also a great contributor.

It does seem that menopausal status should be given more weight than age at diagnosis in determining suitability for genetic testing. Also, I find it curious that insurance company guidelines allow a sister to be checked for mutations due to my experience as well as our mother having hadcancer but I only have one first degree relative with a qualifying disease so my coverage was not automatic (the two different tumors ILC/IDC are what tipped the balance. I was still faced with a denial which I won upon appeal, appearing in person before a review committee)

Hi Ddw79:

Inks and vlnrph provided some excellent comments, corrections and information. There is always more to learn.

It is very interesting that you are a part of the early history of genetic testing (a patient pioneer), as well as its continuing evolution.

BarredOwl

Thanks for all of the wonderful information. 

In my case, I was diagnosed at age 49 and I was premenopausal.  I had not even had any perimenopausal symptoms and all at the time.  I was told that 50 is an arbitrary age but that is what the insurance companies go by. 

In my case, I was able to have the genetic tests because I had 2 family members with bc, I was diagnosed prior to age 50, and I am Ashkenazi Jewish.  I was told that 3 factors is what it takes to have the test mostly paid for by my insurance co. I still had a copay but it was only a few hundred dollars.  After reading this post, I found out that I actually had more risk factors.  I have a lot of other cancer in my family.  Also, I had 2 tumors and more than 1 kind of cancer.  (PILC, PLCIS - those would be counted as basically the same thing, I believe, but I also had Invasive Tubular Carcinoma.)  They did not count both tumors for me at the time that I was considering genetic testing because the larger of my tumors came back as being benign at the time of the biopsy.  It was actually malignant but that was not discovered until my pathology report came back from my double lumpectomy. 

My genetic counselor was fantastic.  She was so knowledgeable and helpful.  She spent a great deal of time with me.  She really helped me.

The only problem with my genetic testing is that my results came back with a genetic mutation that is unknown.  That makes it stressful for me.  They have absolutely no information on this particular mutation aside from the fact that it may be for the colon but they really have no idea.

Good luck to everyone here.

Dear Barred Owl:

Thank you so much for the link and for the information.  You are a vast wealth of knowledge and you have a gift for research.  I admire that.  Thanks again for everything.

Sincerely,

614