Uptake and efficacy of bilateral risk reducing surgery in unaffected female
Adolescent
Adult
Aged
Aged, 80 and over
Breast Neoplasms
/ genetics
Female
Follow-Up Studies
Genes, BRCA1
Genes, BRCA2
Heterozygote
Humans
Middle Aged
Ovarian Neoplasms
/ genetics
Prophylactic Mastectomy
Prophylactic Surgical Procedures
Prospective Studies
Risk Assessment
Salpingo-oophorectomy
Young Adult
Genetic Predisposition to Disease
Genetics
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
09
10
2020
revised:
24
11
2020
accepted:
26
11
2020
pubmed:
12
2
2021
medline:
3
3
2022
entrez:
11
2
2021
Statut:
ppublish
Résumé
Women testing positive for Women were prospectively followed up from positive genetic test (GT) result to censor date. χ² testing compared categorical variables; Cox regression model estimated HRs and 95% CI for BC/ovarian cancer cases associated with RRS, and impact on all-cause mortality; Kaplan-Meier curves estimated cumulative RRS uptake. The annual cancer incidence was estimated by women-years at risk. In total, 887 women were included in this analysis. Mean follow-up was 6.26 years (range=0.01-24.3; total=4685.4 women-years). RRS was performed in 512 women, 73 before GT. Overall RRM uptake was 57.9% and RRSO uptake was 78.6%. The median time from GT to RRM was 18.4 months, and from GT to RRSO-10.0 months. Annual BC incidence in the study population was 1.28%. Relative BC risk reduction (RRM versus non-RRM) was 94%. Risk reduction of ovarian cancer (RRSO versus non-RRSO) was 100%. Over a 24-year period, we observed an increasing number of women opting for RRS. We showed that the timing of RRS remains suboptimal, especially in women undergoing RRSO. Both RRM and RRSO showed a significant effect on relevant cancer risk reduction. However, there was no statistically significant RRSO protective effect on BC.
Sections du résumé
BACKGROUND
Women testing positive for
METHODS
Women were prospectively followed up from positive genetic test (GT) result to censor date. χ² testing compared categorical variables; Cox regression model estimated HRs and 95% CI for BC/ovarian cancer cases associated with RRS, and impact on all-cause mortality; Kaplan-Meier curves estimated cumulative RRS uptake. The annual cancer incidence was estimated by women-years at risk.
RESULTS
In total, 887 women were included in this analysis. Mean follow-up was 6.26 years (range=0.01-24.3; total=4685.4 women-years). RRS was performed in 512 women, 73 before GT. Overall RRM uptake was 57.9% and RRSO uptake was 78.6%. The median time from GT to RRM was 18.4 months, and from GT to RRSO-10.0 months. Annual BC incidence in the study population was 1.28%. Relative BC risk reduction (RRM versus non-RRM) was 94%. Risk reduction of ovarian cancer (RRSO versus non-RRSO) was 100%.
CONCLUSION
Over a 24-year period, we observed an increasing number of women opting for RRS. We showed that the timing of RRS remains suboptimal, especially in women undergoing RRSO. Both RRM and RRSO showed a significant effect on relevant cancer risk reduction. However, there was no statistically significant RRSO protective effect on BC.
Identifiants
pubmed: 33568438
pii: jmedgenet-2020-107356
doi: 10.1136/jmedgenet-2020-107356
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
133-140Subventions
Organisme : Department of Health
ID : NIHR-CS-012-009
Pays : United Kingdom
Organisme : Department of Health
ID : NF-SI-0513–10076
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.