Breast cancer is the most frequent malignant neoplasm detected at women. Approximately 10% of cases result from strong hereditary mutations – changes in the genetic material leading to very high probability of breast cancer/ ovary cancer. Next 20% of the affected are people with variants of genes predispositioning for the development of various neoplasm cases. So at least 1/3 of affected women may know in advance about the potential neoplasm danger.
They just need to perform genetic tests in time. The test covers 15 mutations that may cause breast cancer/ ovary cancer in 7 genes. Mutations, once they are detected, increase the risk of developing also other types of neoplasm. In Poland, the most dangerous from the point of view of developing breast cancer/ ovary cancer are considered to be mutations in BRCA1 gene.
Due to the earlier age at which the cancer develops and also its malignant nature, there is a need to identify the carriers of this gene mutation and implement appropriate prophylaxis with them at a very young age. A similar situation is with the carriers of mutation C5972T within BRCA2 gene and mutation 3020insC in gene NOD2, each oneof which increases the risk of developing breast cancer under the age of 50 by 5 times. Mutation in BRCA2 is also connected with mammary cancer in case of men.
This mutation is found in ca. 6% of cases of breast cancer development under 50. The fact of carrying a mutation 657del5 in NBS1 gene increases the risk of developing breast cancer by 2 times and it can be found with ca. 1% of all breast cancer cases. Mutations twisting protein (1100delC, IVS2+1GA) within CHEK2 gene increases the risk of breast cancer by ca. 2.4-fold and can be found with ca. 2.5% of all breast cancer cases. Mutation I157T increases by ca. 1.5-fold the risk of developing breast cancer and by ca. 2-fold the risk of ovary cancer with low level of morphologic malignancy and by 2.5-fold the risk of ovary cancer with borderline malignancy. It can be found at ca. 7% of cases of breast cancer and 10% of cases of ovary cancer. Homozygous carriage of mutations 142G/G, 355T/T, 4326C/C within CYP1/B1 gene increases by ca. 2-fold the risk of breast cancer and mutation A148T within CDKN2A (p16) gene is connected with ca. 1.5-fold greater risk of breast cancer and can be found with ca. 5% of all breast cancer cases.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 14 business days
Breast cancer is one of the most important health problems and the most frequent malignant neoplasm detected at women. In Poland, it accounts for over 20% of all malignant neoplasm female cases, while ovary cancer accounts for 5%. This means that one in eight women shall develop breast cancer during their life and only one in 70 shall suffer from ovary cancer and unfortunately will most likely die within five years as of the diagnosis because of the diagnosis coming too late.
Who and why should make the test:
The test can be made by anyone who is worried with a possibility of developing breast/ ovary cancer, but the target group is mostly made up by people who currently suffer from a neoplasm or people who have undergone treatment to check if their disease has genetic background and what is the possibility of transferring such genetic predisposition onto their offspring. Test clients also include family members of people suffering from neoplasm.
In particular, more than one case of breast cancer in a given family or additional development of colorectal cancer, prostate cancer, pancreas cancer, ovary cancer, testiculoma or mammary cancer as well as developing neoplasm before the age of 50 should be the reasons to go for testing for carrying mutations covered by the tests. The so called ‘positive interview’ should indicate to a doctor (not only geneticist) that a genetic test should be recommended.
Mutations with strong predisposition for cancer development should be reflected in medical records of a given family, but this is not always the case. This is because of life circumstances, too few family members, unfamiliarity with the diseases of more distant relatives or transferring the mutation through the male line. That is why it is so important to test the genetic background of each case of already diagnosed breast cancer and exclude through such testing even the slightest possibilities of transferring the neoplasm mutation onto offspring. The neoplasm may develop with everybody and its probability grows along with the person's age. People who have genetic predisposition may develop breast cancer relatively early, in the fullness of one's professional capacity, in the period of passion development, raising small children and even pregnancy. It is optimal to test one's predisposition for breast cancer and ovary cancer as early as possible in the adult life, so that to have a possibility to take conscious decisions on one's diet, procreation, natural breast feeding, contraception methods and in the first place regular testing. Prophylaxis options also include ovariectomy after finishing the procreation period, mastectomy even before a neoplasm is detected or serious operation in case of developing the cancer.