Table 5. Screening or prevention recommendations for persons carrying mutations of genes analyzed in the Cancer and Genetics Group panel (Adapted from [58]).
| Gene | Breast surveillance | Risk reduction surgery | Gynecologic surveillance | |
|---|---|---|---|---|
| Breast | Pelvis | |||
| BRCA1 BRCA2 | 30 - 65 year, annual MRI + mammogram (± Ultrasound) After 65 years, mammogram ± Ultrasound (Recommendations HAS 2014* and INCa 2017**) | Prophylactic mastectomy (Recommendations HAS 2014 * and INCa 2017**) | Prophylactic annexectomy (discussed from the age of 40 years and according to mutations and FH of OC) ** | Before RRS: standard surveillance and no efficacious ovarian screening available * |
| PALB2 CDH1 | No specific gynecological guidelines If FH of OC: MDC | Standard surveillance | ||
| PTEN | Standard surveillance If gynecologic lesions of CD: MDC | |||
| TP53 | Starting at 20 years, annual MRI + Ultrasound (no systematic mammogram) | Standard surveillance | ||
| RAD51C RAD51D | No specific breast surveillance To be adapted to FH of BC according to guidelines HAS 2014* | Not indicated | Prophylactic annexectomy (discussed from the age of 45 years and according to FH of OC) | Before RRS: standard surveillance and no efficacious ovarian screening to be proposed ** |
| MLH1 MSH2 MSH6 PMS2 EPCAM | Ovarian and/or uterine RRS To be discussed in MDC according to Lynch syndrome guidelines | Uterine surveillance according to Lynch syndrome guidelines | ||
BC: Breast Cancers; OC: Ovarian Cancers; FH: Family History; CD: Cowden disease; MDC: Multidisciplinary Committee; RRS: Risk reduction surgery.
*Recommendation of French Health Authority (HAS) 2014: French Breast cancer National screening program.
**©/Recommendation of French National Cancer Institute (INCa), April 2017.