Increased chemotherapy-induced ovarian reserve loss in women with germline BRCA mutations due to oocyte deoxyribonucleic acid double strand break repair deficiency.


Journal

Fertility and sterility
ISSN: 1556-5653
Titre abrégé: Fertil Steril
Pays: United States
ID NLM: 0372772

Informations de publication

Date de publication:
06 2020
Historique:
received: 21 08 2019
revised: 23 01 2020
accepted: 24 01 2020
pubmed: 26 4 2020
medline: 17 2 2021
entrez: 26 4 2020
Statut: ppublish

Résumé

To assess whether woman who have BRCA mutations (WBM) experience more declines in ovarian reserve after chemotherapy treatment, as it induces oocyte death by deoxyribonucleic acid (DNA) damage, and BRCA mutations result in DNA damage repair deficiency. Longitudinal cohort study. Academic centers. The 108 evaluable women with breast cancer were stratified into those never tested (negative family history; n = 35) and those negative (n = 59) or positive (n = 14) for a pathogenic BRCA mutation. Sera were longitudinally obtained before and 12-24 months after chemotherapy treatment, assayed for antimüllerian hormone (AMH), and adjusted for age at sample collection. Ovarian recovery, defined as the geometric mean of the after chemotherapy age-adjusted AMH levels compared with baseline levels. Compared with the controls, the before chemotherapy treatment AMH levels were 24% and 34% lower in those negative or positive for BRCA mutations, consistent with accelerated ovarian aging in WBM. The WBM had a threefold difference in AMH recovery after chemotherapy treatment (1.6%), when compared with BRCA negative (3.7%) and untested/low risk controls (5.2%). Limiting the analysis to the most common regimen, doxorubicin and cyclophosphamide followed by paclitaxel, showed similar results. These findings were mechanistically confirmed in an in vitro mouse oocyte BRCA knockdown bioassay, which showed that BRCA deficiency results in increased oocyte susceptibility to doxorubicin. Women who have pathogenic BRCA mutations are more likely to lose ovarian reserve after chemotherapy treatment, suggesting an emphasis on fertility preservation. Furthermore, our findings generate the hypothesis that DNA repair deficiency is a shared mechanism between aging, infertility, and cancer. NCT00823654.

Identifiants

pubmed: 32331767
pii: S0015-0282(20)30036-4
doi: 10.1016/j.fertnstert.2020.01.033
pmc: PMC7339936
mid: NIHMS1586734
pii:
doi:

Substances chimiques

Antineoplastic Agents 0
BRCA1 Protein 0
BRCA1 protein, human 0
BRCA2 Protein 0
BRCA2 protein, human 0
Biomarkers 0
Anti-Mullerian Hormone 80497-65-0

Banques de données

ClinicalTrials.gov
['NCT00823654']

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1251-1260.e1

Subventions

Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD053112
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2020 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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Auteurs

Kutluk H Oktay (KH)

Department of Obstetrics and Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut. Electronic address: info@fertilitypreservation.org.

Giuliano Bedoschi (G)

Department of Obstetrics and Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut.

Shari B Goldfarb (SB)

Memorial Sloan Kettering Cancer Center, New York, New York.

Enes Taylan (E)

Department of Obstetrics and Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut.

Shiny Titus (S)

Department of Obstetrics and Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut.

Glenn E Palomaki (GE)

Department of Pathology and Laboratory Medicine, Women & Infants Hospital and Alpert Medical School at Brown University, Providence, Rhode Island.

Tessa Cigler (T)

Weill Medical College of Cornell University, New York, New York.

Mark Robson (M)

Memorial Sloan Kettering Cancer Center, New York, New York.

Maura N Dickler (MN)

Memorial Sloan Kettering Cancer Center, New York, New York.

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Classifications MeSH