new gene testing for bc

Hi all; 2 of my great aunts suffered breast cancer, 1 died, My mother died from breast cancer, my sister has had bc and I have had bc, endometrium cancer and now have secondarys in bones, lungs and lining of stomach and bowel. I have numerous cousins on my dads side who have had it. I was gene tested for brca 1 and 2 with a negative result but my sister was not tested which seems rediculous when they say not all family members will carry it. However my daughter visited a geneologist today as her GP wrongly assumed she could be tested. However he did ask for blood samples from me, as they are now testing for another faulty gene, Has anyone heard of this?. Surely it has to more than bad luck when as many family members are effected. X

Hi lanii

Whilst you wait for the other forum user to reply with their knowledge and experiences you might find it uesful to read the BCC booklet ‘breast cancer in families’. It explains what is meant by a significant family history of breast cancer and suggests what to do if you think this may apply to you or to members of your family. Just click on the link if you would like to order a copy or read this on line:-

I hope you find it helfpul.

Kind regards Sam, BCC Facilitator

Thanks sam i have ordered it. x

Hi Lanii I am so sorry you and your family have had to go through the nightmare that is bc and I am so sorry to hear of the loss of your mum and great aunt. Jus after I turned 43 i was diagnosed with bc (July 2012). my sister was dx with ovarian cancer at the age of 27 and we had an aut who died of bc at 51 and our grandfather died of prostrate cancer so all things considered, the genetics team referred me for genetic testing. I received my results Saturday and I have tested negative for bothe BRAC1 and BRAC2. I think in my case, its just stupid bad luck! However, there are other genes out there, the most widely known one is TP53, which they can test you for - this predisposes you to certain types of cancer, including breast cancer (LI Fraumeni syndrome). In my case, my DNA, along with my sisters, if going into another testing/research programme at the Marsden which is looking into cancers with a familal link. However, I am not having any other genetic testing at this stage.
Sending good wishes for your treatment. x

Thanks spookymoo for your reply and so sorry to hear about your own family history… I don’t understand why my sister hasn’t been tested but I will still send blood samples for this other test whether it is this TP53 or something else. My biggest worry is I have 3 daughtesr as well as a son, my ED particularly worries about BC as she has 3 young children but i suppose what will be will be. I was 44 when I was 1st dx in 2000 and i’m still here so shouldn’t complain . Take care X

Hi Ianii,
The study spooky moo is referring to is called the Genetics of Familial Breast Cancer Study. I was enetered into this study as my own family history suggested I was at a low risk of having an inherited mutation, but I had a triple negative breast cancer which the researchers were noticing seemed to be linked to brca1 in women under 50. It was through this study that I was diagnosed (through the study) with a brca1 mutation and have just finished treatment for a second breast cancer.
Like you, think it seems a bit strange that your sister was not tested, as you are quite right that she could carry the mutation, and you not. The other thing to remember is that not all mutations are known yet, so unfortunately, it is not always the case that not having a mutation means you are at low risk (except that I think the genetics centre would tell you if they think you arre at high risk). Also, just because any individual is not eligible for testing, it is worth them going to genetics as they qualify for early screening and this might reassure your daughter.
As well as the publication Sam has suggested, Breakthrough Breast Cancer produce a very comprehensive guide for people worried about their family history- if you cant find it, let me know and I will post the link for it.
There are some very knowledgeable women on this forum who I am sure will post. In the meantime, wishing lots of luck and best wishes,

Hello lani
I was tested for brca mutations due to family history of bc. My mum, her sister had it and their mother died from bc aged 52. Mt great grandmother died from pancreatic cancer. I tested negative but was advised that there are other, as yet, unidentified genes out there. As both my mum and myself had triple negative bc, the geneticist felt there was likely to be something genetic going on. My sisters and my daughter are all considered ‘high risk’ and will be screened from age 35.
Lots of luck with your future treatment

they are finding new genes all the time eg RAD51C, RAD51D and abraxas… i dont think they are testing individuals for these genes yet but they are aware of them although not as significant as BRCA 1 and 2.

TP53 tends to be associated with sarcomas and child hood cancers as well as breast cancers.

with genetic testing what they do in the initial person is call a full mutation analysis where they look through the whole gene for spelling mistakes… a bit like looking through the bible to see if any words are spelt wrong… this is very time consuming and they only usualy do it once for each family… this is usually the youngest affected family member. if they find a spelling mistake with other family members they can do a predictive test… this basically looks at the same word on the page as your spelling mistake to see if they have the same one… if you dont have a spelling mistake they have nothing to look for in your family members.

where more than one individual has had BC in a family they would normally just look at the most likely person to have a mutation… only 20% of the high risk families tested have a mutation… if a test has come back with no gene mutation found it would be a very slim chance that another family member has a mutation and you dont… this would probably be too costly and too time consuming on the NHS and not a good use of resources.

even if no gene change is found your family member would still be eligible for early breast screening usually from age 40 but sometimes younger.

this is the ICR screening guidelines…\_leaders/Rahman\_Nazneen/Rahman\_Nazneen\_Protocols/Protocols/18705.pdf

i was also in the same study that Rattles was in the Genetics of familial breast cancer study (now renamed the breast and ovarian susceptability study BOCS) and tested negative but a few years later was tested again through the hospital labs after i got another cancer and this turned out to be positive for brca2. the research study is not as rigorous as the nhs labs as the main aim of their testing is to rule mutation carriers out of the research… my case is very unusual… but it can happen. so it is possible they can test your sister if she fits the criteria without your diagnosis.

if your sister were found to have a mutation then your own children wouldnt be at any increased risk if you dont have the gene as it is directly inherited and cannot skip generations. with the current evidence they have getting a neg result from testing lowers your ovarian risk significantly as the ovarian risk is only raised in brca 1 or 2 families or where there is an existing familiy history of ovarian cancer.

hope this helps a bit

Thanks Lulu for your reply, it really has helped explain things. We’ll have to wait for this latest test to come back and take it from there. thanks again take care x

Hi ive been reading all your comments and I havnt used this before but I was wondering, I dont know if bc or any other cancer is in my so called ‘family’ history I have no idea. Can I ask for genetic testing? I have a son and daughter and would feel better knowing for them. Is there something in my pathology report that would have suggest I needed genetic testing. Thanks X

Hi hannah.

very unlikely they will offer genetic testing without any family history, unless you have triple neg BC… Neg for hormones oestrogen and progesterone and neg for her 2.

if you are under 40 your daughters and sisters would be eligible for early screening.

only those who are considered high risk are offered testing but families of high and moderate risk family can be screened… Usually from 40 but in some cases from 35 or even 30 depinding on your history.