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- In practice, what type of information will the test provide me with?
With the clinical questionnaire, your breast density (obtained from the mammography examination) and your polygenetic risk score if you have one, the MammoRisk® test provides a clear, accurate report on your risk of breast cancer within the next five years. It enables your doctor to decide with you on a customised monitoring programme (frequency and types of screening).
- What is saliva sampling for?
Saliva sampling is used to analyse the presence of certain markers in your DNA: polymorphisms or SNPs. Studies have shown that taken individually, each SNP has a certain but minimal effect on breast cancer risk. However, when they are combined in the form of a polygenic risk score (PRS), their impact on the risk is significant and comparable to other risk factors such as breast density. The PRS score from the MammoRisk® test combines the effects of around a hundred SNPs 1,2,3,4.
- I am 35 and I would like to know my breast cancer risk, can I take the MammoRisk® test® ?
MammoRisk® has been developed with cohorts of women between 40 and 74 years and therefore has not been validated for women under 40. Mammorisk® has been designed for all women (≥ 40) with no known specific risk of breast cancer. Mammorisk® is also intended for women with a family history of breast cancer, taking into account first degree relatives (mother, sister, daughter) as well as women with no predisposition who want to find out their disease risk with a fast, easy-to-use test.
- I have no family history of breast cancer, what is the point of doing this test?
Only 5% of breast cancers are explained by BRCA1 or BRCA2 gene mutations. 10 to 15% of breast cancers are explained by unidentified genetic factors. In contrast almost 8 breast cancers out of 10 appear in women with no family history of breast cancer. The MammoRisk® test is intended to help your doctor evaluate your breast cancer risk over the next five years and according to your risk come to a shared decision with you on a customised monitoring programme.
- Does the MammoRisk® test look for hereditary cancer markers (e.g. BRCA1/BRCA2 mutations)?
The MammoRisk® does not look for hereditary cancer variants like BRCA1 and BRCA2 mutations.
- The search for what are known as pathogenic mutations is very restricted and limited to certain specific situations that suggest genetic predisposition.
- It is not the same type of technique: for BRCA1 and BRCA2 searches, whole genome sequencing techniques must be used. In the MammoRisk® PRS analysis we use a genotyping technique that specifically targets around a hundred DNA polymorphisms. They are common DNA variations which individually have a weak impact on the risk, but in combination may have a more significant impact 1,2,4. PRS is personal, a separate evaluation is required for each individual in the same family.
- If I carry a genetic mutation for hereditary breast cancer (like an alteration in the BRCA1 or BRCA2 genes) can I do the MammoRisk® test?
No, in that case, the MammoRisk® is not suitable for evaluating your breast cancer risk. If you carry a genetic mutation for hereditary breast cancer your cancer risk must be evaluated by a geneticist as part of an oncogenetic consultation.
- How soon are the MammoRisk® results available?
If all the elements required for the test are available, MammoRisk® instantly calculates your risk of developing breast cancer over 5 years. However, a mammogram is required to assess your breast density. If the PRS option is chosen, the results of the saliva test are sent by the laboratory to your doctor around 3 weeks after receiving your saliva sample.
- I have already had breast cancer, can I do the test?
No, if you have already had breast cancer, you are not eligible for a MammoRisk® test. In that situation the MammoRisk® test is not suitable for evaluating your risk of breast cancer.
- Must I take the MammoRisk® test again every 5 years?
The MammoRisk® test gives an estimate of breast cancer risk over 5 years based on your personal and family medical history. Any new event may change that estimate. In any event, it is advisable to re-assess your risk every 5 years at least with your clinical and imaging (breast density) data. With the saliva test, if the number and type of DNA markers (SNPs) remain the same, there is no need to repeat the test. The PRS may, however, change as our knowledge evolves, to include new polymorphisms.
- A member of my family has evaluated their risk of breast cancer with MammoRisk®, do I also have to do the test?
The MammoRisk® test is personal to each individual. It is based on your clinical data, your imaging data and your polygenic risk score if you have one. With these criteria, your doctor can decide with you on a customised monitoring programme (frequency and types of screening).
- Is the test available for men?
No, although men can get breast cancer MammoRisk® has only been validated on women from 40 to 74 years.
- Where can I do my MammoRisk® test?
Only a doctor with the correct equipment can conduct and prescribe the MammoRisk® test.
- Yanes et Al. Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field Breast Cancer Research (2020) 22:21.
- Shieh et Al. Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial. JNCI J Natl Cancer Inst (2017) 109(5): djw290.
- Vachon CM, et al. The Contributions of Breast Density and Common Genetic Variation to Breast Cancer Risk. NCI J Natl Cancer Inst (2015) 107(5): dju397.
- Mavaddat N, et al. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet. 2019;104(1):21-34.
- Lee A, et al. BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies. Ann Lab Med 2020;40:114-121.
- Site e-cancer – Dépistage du cancer du sein : orienter vos patientes en fonction de leur niveau de risque. Visité le 21/08/2020. https://www.e-cancer.fr/Professionnels-de-sante/Depistage-et-detection-precoce/Depistage-du-cancer-du-sein/Orienter-vos-patientes#toc-les-patientes-avec-ant-c-dents-personnels