Family history, Negative Genetic test

My wife is a childhood survivor of cancer. 30 years later, at age 45, she was diagnosed with Stage 2A ILC.
Lots of genetic tests were done (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, NBN, PALB2, PMS2, PTEN, RAD51C, SLX4, STK11, TP53). Results were all Negative.

Her family history for cancer:
1. Paternal Grandfather: Died ~69 Pancreatic cancer
2. Paternal Grandmother: Died ~66; Mets. either Esophageal or Ovarian cancer [Inconclusive origin]
3. Maternal Grandmother: Age ~early 80s had Breast cancer (unclear what type, Lumpectomy performed),
Died in 2012 at age 93 of natural causes
4. Paternal Grandmother Sibling 1: Age ~31 Had Uterine cancer, Died ~46 of Lung cancer [Heavy smoker though]
5. Paternal Grandmother Sibling 2: Died ~86; Mets. Pancreatic & Liver cancer. [Inconclusive origin]
6. Misc - Uncle & numerous cousins have had the following:
- Second cousin 1: Breast cancer (Died in 2013 at age 64; Dx in 2000 with IDC at age ~51, told it was aggressive & possibly triple negative. No one remembers specifics)
- Second cousin 2: Leukemia; Just Dx in 2014, age 63, Still alive.
- Second Uncle 1: Rectal cancer; Dx ~12 years ago. Still alive.
- Third cousin 1: Brain cancer at age ~23 (15 years ago). Still alive.

Fatima,

Going to a genetic counselor is a good idea. The thing you must remember is that BRACA 1&2 genes account for a very small percentage of breast cancer cases ,10-15%,  despite family history. This doesn't mean there aren't other genes which may be related to bc but they have yet to be discovered.

Caryn

fatima,

The link I'm providing is to a highly reputable company here in the U.S. That does genetic counseling via telephone specifically for situations like yours.  http://www.informeddna.com

I hope this is helpful,

Warmly, Marcia

my mum has bc, first at age 52. Her mum was age 56. Both terminal. My paternal aunt too. Later cases of other cancers in my family too.

I saw a genetic counsellor who said I was not likely to have the BRCA mutations so they didn't test me. I didn't push for it either as they said BRCA mutations are only responsible for 5% of breast cancers. 20% of breast cancers are due to "familial " tendancies. They are not entirely sure what causes these. They could be genetically linked, due to genes we can't test for yet or due to a combination of various genes or mutations. Or it could be due to environmental factors, or factors such as diet, other medical or biological conditions or any combination of the above. So impossible to understand or test at the moment.  They said I was in his 20% group. Moderate risk. I was advised to limit alcohol to one or two glasses a day, eat more fruit and vege, excercise more, have yearly mammograms and ultrasounds.  The genetic oncologists confirmed that this might help, but they can't be sure. Basically they just don't know. They gave me odds of 1 in 4 of getting breastcancer.

For me this isn't enough. Watching my mum die from this is horrendous. All women in my family who got bc have died or will die. So I am opting for a prohylactic mastectomy. For some this will seem drastic, for me not. Not having the BRCA mutation isn't any reassurance for me. There are so many cases that they just don't understand. For my family modern medicine hasn't been able to stop the cancer killing women before they reach old age. I won't settle for this and am taking my life and my choices into my own hands. 

I once read something and it made me think, it's something I can't get past - why keep something I don't need, that just might kill me? Luckily I am married to a very wonderful supportive man, I have three beautiful little children and my breasts have served me well. But I will quit with them while I am ahead. I plan surgery next year and am having consultations with a couple of surgeons right now.

I am starting to get concerned about my breast cancer risk.  I am currently 30 and have only found a couple "cysts" that came and went over the years on my left breast. I am becoming worried about my level of risk since my paternal grandmother died of BC nearly 2 years ago.  I am debating on getting tested genetically but I don't think I have enough close relatives to warrant such a test/cost.  

  My Paternal Grandmother was diagnosed at 48 with breast cancer and died at 50.  

  My Paternal great Aunt (grandmas sister) was diagnosed with breast cancer at 60 and is a survivor.  

  My Maternal Grandmother was diagnosed with breast cancer at age 71 and died after a reoccurrence at 74.  

   There are very distant cousins (some still alive) and a great great Aunt that died of breast cancer at age 48 as well.  All from the paternal side.  

  The only other case of cancer in the family was with my Maternal Uncle who had Melanoma and survived.   

One of my Paternal Aunts had the voluntary mastectomy of both breast a few years ago and she's been fine since.  

OC,

When I met with my SO, she was most concerned with premenopausal diagnosis of BC. Another factor considered is ethnic heritage.

Myriad is the company that did my test. Here is a link for them if you are interested.

https://ms360.myriad.com/

Poppy

I,ve had BC (14 year survivor), My sister had BC(13 year survivor), My Mother had BC2x's (22year and 2 year survivor), my Aunt (moms sister) had BC(23 year survivor). All of us have survived. I've been test 2x's, once in 2001 and again in 2011, negative both times. My sister was tested in 2002, negative. Go figure. we entered a test study to see if there is another mutation. It probably won't benefit us but future generations.

Melissadallas, you say less than ten percent is inherited. But that's only kind of true...

I was told 5% is fully genetic. But a further 20 percent are due to family traits. So they may also be due to somegenetic factors there. It's just all a bit vague.

Far, I am glad you feel safe. That's the peace of mind I am looking for. So far I have met and liked a surgeon and a plastic surgeon. We are all ready to go ahead when I give the nod. Maybe next year.

Happy new year ladies. Let's hope 2015 bring us some happiness.

oh hi!! How's recovery going? Is it very painful?

Oh well done on making your decision.

I am ready to go when the time is right - I can't while my mum is so unwell and I may need to travel to see her at any time. Also, I don't want her worrying.

It's been almost 2 yrs since I first thought of this as a "solution" and I haven't changed my mind, despite talking with various genetic counsellors, surgeons and doctors. So I am assuming I am of sane mind and have made my decision carefully I am so ready for people to suggest I was rushing into it.....

Oh wow it's great to find someone in such a similar boat. I hope you are feeling ok.

It is very confusing as each case is different and risk factors are only rough guides. The complexities of testing can be overwhelming.

Read here for steps you can take to feel more in control of the process:

Test Results and Medical Records, including what to do when you get your results, and how to keep track of your records.

Getting your test results

Screening and Testing

Managing Breast Cancer Fears, with tips on keeping your fears at bay.

We wish you all the best.

The Mods

Hi Ladies If I could just add my thoughts.

All my maternal family members have died of BC. I am the first to be dxed in my generation and BRCA neg.

We need to acknowledge that that BRCA 1 and 2 are the ONLY genetic mutations identified currently. We all have thousands of genes, and since it's genetic studies are fairly recent, only a minimal amt of genetic abnormalities have been id'ed. So if you have a strong family hx and you're BRCA neg that does not mean you do not have a genetic component. We just haven't found more BC mutations.

I know in my heart I carry an unfound mutation which many docs I've spoken to agree.

The really great thing is that a great majority of clinical trials are including optional genetic studies which will help us all in locating more mutations for future targeted treatments.

Hopefully sooner then later!

Thanks Papillon. I so understand your situation. I was dxed 18 mos, after my mom died of Met BC.

I definitely support your decision to have prophylactive mastectomies. My dx locally advanced BC was a stage IIIC ,and I was super diligent and worked in Oncology for years! After my mast for my affected breast I demanded a prophylactive Mast on the good side.

It was met with great resistance. However once the path report on the "good breast" came the finding were extensive atypia and hyperplasia.

My doc's remarked " you were right"

There is so much we don't know about BC still. So always go with your gut.

Papillon1 - I agree completely - be your own advocate. 

I just got the call from my appointment on Tuesday - gotta go back they found cluster of calcifications this time.  Was expecting the all clear again but I also have great support in my partner so I feel good about that and my two sisters who have gone through it.  I also know if could be and likely is benign.