The risk of developing breast cancer is increased 1.5 to 3 times if you have a mother or sister who had breast cancer compared to those who don’t have any family history. However, the majority of women who get breast cancer do not have any family member who has the disease, and only around 20% of women have a true hereditary predisposition to get breast cancer.
A simple blood test can be taken to find out whether you have certain genes that can predispose you to have a breast cancer such as BRCA 1 and BRCA 2 gene. Mutations in these genes account for only around 20% of those tumours with familial predisposition.
Genetic testing for BRCA1/BRCA2 gene mutation in women is particularly helpful if there are*
The cells in our body have multiple DNA and RNA. When this DNA and RNA multiply, there can be some damages. BRCA1 and BRCA2 genes help to repair these damages, help prevent cancer and so they are called tumour suppressor genes. When these genes under go mutation, the damages in the DNA and RNA are not mended and result in cancer.
|Cancers produced by BRCA1 gene mutation
|Cancers produced by BRCA2 gene mutation
BRCA 1 and BRCA 2 mutation carriers have a greater than 80 % lifetime risk of breast cancer and if diagnosed with breast cancer they have a 40 % risk of breast cancer on the other side. Of the two gene mutations, compared with other women who get breast cancer, the women with BRCA 1 mutations have tumours
BRCA 1 and BRCA 2 mutations are prevalent approximately among 1 in every 300 women.
The gene mutation test looks out only for certain genes which produce breast cancer like BRCA1, BRCA2, PALB2, CHEK2 and ATM genes. There are many more genes which can cause breast cancer which have not been found to date. Breast cancer is also more common in women without ant family history. So a negative test does not guarantee that you will not get breast cancer and you would need to get your breasts regularly screened for breast cancer just as everyone else would which is
The options for breast reconstruction can be broadly divided into
The chance of having breast cancer in the opposite breast is about 40% if you have breast cancer in one breast. The hormone therapy that may be given for the first breast cancer may give some protection for breast cancer. However, there is always a high risk and hence prophylactic mastectomy and reconstruction of both the breasts can be done at the same time.
The other genes to have been reported to cause breast cancer are PALB2 gene mutation, CHEK2 mutation and ATM gene mutation. The risk profiles of the causative breast cancer gene mutations are as follows
|Risk of Breast Cancer (%)
|Increased Relative Risk
|Age at Which Prophylactic Surgery is Considered (yr)
|25 - 30
|34 - 58
|2 - 4
|35 - 40
|20 - 40
|2 - 4
|35 - 40
|20 - 40
|2 - 4
|35 - 40
The risk of developing ovarian cancer by the age of 70 in patients with BRCA1 gene mutation is 33% and those with BRCA 2 gene mutation is 11%. Women with BRCA 1 gene mutation have a sharp increase in developing ovarian cancer beyond the age of 40 and women with BRCA2 gene mutation have a sharp increase in developing ovarian cancer by the age of 50 years.
It is recommended that you have frequent checkups every 6 months from the age of 25 to detect ovarian cancer early by the following
Removal of both the ovaries along with the fallopian tubes is recommended after the age of 35 and after when childbearing decisions are complete.
It is recommended that you inform your family members as well as they may have the same gene mutation. Testing for the gene mutation early may help them prevent having cancer and the treatment of cancers such as chemotherapy, radiotherapy and hormone therapy. However, the decision to test themselves should lie with themselves and not be forced on.
Men are not spared from the effects of BRCA 1 and BRCA 2 gene mutations as they can also develop breast cancers. The risk for developing breast cancers is higher especially for those with BRCA2 gene mutations. Breast cancer can be detected in men by self-examination and if they detect any swelling, nipple discharge, nipple asymmetry they need to see the doctor immediately to rule out breast cancer.