Startseite Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues
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Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues

  • Laura Knabben EMAIL logo , Franziska Siegenthaler ORCID logo , Sara Imboden und Michael D. Mueller
Veröffentlicht/Copyright: 6. Oktober 2020
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Hormone Molecular Biology and Clinical Investigation
Aus der Zeitschrift Hormone Molecular Biology and Clinical Investigation Band 43 Heft 2

Abstract

Objectives

Genetic testing rates for hereditary breast and ovarian cancer (HBOC) have steadily increased during the past decades resulting in a growing population of young and healthy mutation carriers. Available data on fertility issues in BRCA mutation carriers is rising but the results remain to some extent still conflicting.

We have performed a systematic literature review in order to get an overview concerning the current evidence on fertility issues in BRCA mutation carriers. Data were analyzed critically with the aim to deliver physicians a solid basis for (onco) fertility counseling in women with BRCA mutations.

Content

We present the latest data on cancer risks in women with HBOC and analyze the influence of cancer treatment and preventive surgery on the reproductive potential. Epidemiological studies on fertility issues in BRCA mutation carriers showed heterogeneous results. However, several authors showed a decreased ovarian reserve with lower Anti-Müllerien hormone (AMH) levels and poorer response to ovarian stimulation in BRCA positive women. The diagnosis of BRCA mutations influences reproductive decision-making. Additionally, the shortened reproductive window and the need to complete family planning early has a significant psychological impact.

Summary and Outlook

This article highlights the importance of fertility counseling in BRCA mutation carriers. Individual fertility counseling is mandatory. Fertility preservation strategies should be discussed.

Highlights

  1. BRCA mutation carriers have a shortened fertile window.

  2. Cancer treatment and preventive surgery impair fertility.

  3. Current data indicate decreased ovarian reserve.

  4. Infertility treatment does not increase the risk for breast and ovarian cancer.

  5. Awareness and acceptance rates for PND and PGD are still low.

  6. Fertility counseling and support for young women with BRCA mutations is mandatory.

  7. Mutation carriers should not delay child-bearing.

Keywords: BRCA mutation carriers; fertility; hereditary breast and ovarian cancer syndrome; premature menopause; reproductive decisions
Corresponding author: Laura Knabben, Department of Obstetrics and Gynaecology, University Hospital of Bern, Effingerstrasse 102, 3010 Berne, Switzerland, Phone: +41 31 632 10 10, Fax: +41 31 632 12 05, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Not applicable.

  5. Ethical approval: Not applicable.

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Received: 2020-01-20
Accepted: 2020-08-24
Published Online: 2020-10-06

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Special Issue 1: Adenomyosis and Endometriosis: An Update; Edited by René Druckmann and Adolf E. Schindler
  3. Review Articles
  4. The impact of endometriosis on the outcome of assisted reproductive techniques: role of fertility preservation
  5. A narrative review of functional outcomes following nerve-sparing surgery for deeply infiltrating endometriosis
  6. Appropriate surgical management of ovarian endometrioma: excision or drainage?
  7. Diaphragmatic endometriosis and thoracic endometriosis syndrome: a review on diagnosis and treatment
  8. Rates of anastomotic leak and fistula following surgical management of bowel endometriosis: a comparison of shaving, discoid excision, and segmental resection
  9. Endometriosis at all ages: diagnostic ultrasound
  10. Special Issue 2: Fertility Preservation in Cancer Patients and Survivors; Edited by René Druckmann and Adolf E. Schindler
  11. Opinion Paper
  12. Quality of life and sexual dysfunction in gynaecological cancer patients: a psychosomatic approach
  13. Review Articles
  14. Fertility preservation in women with early ovarian cancer
  15. Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues
  16. Fertility preservation in borderline ovarian tumor patients and survivors
  17. Regular Issue
  18. Original Articles
  19. Effects of iron-related compounds and bilirubin on redox homeostasis in endometriosis and its malignant transformations
  20. miR-515-3p, miR-623, miR-1272 and Notch3 protein as new biomarkers of Hepatocellular carcinoma
  21. Combination therapy of calcitriol inhibits the proliferation of breast cancer cells: new concept of nonclassical function of calcitriol
  22. The change pattern in serum G protein-coupled estrogen receptor-1 (GPER1) levels during pregnancy with and without gestational diabetes mellitus
  23. Effects of Helichrysum Psudoplicatum supplementation on pruritus intensity, fatigue, quality of life and anorexia in hemodialysis patients: a randomized, double-blind placebo-controlled trial
  24. The anticancer and free radical scavenging potential of the Unani medicine Agaricus albus L.
  25. Review Articles
  26. What is the optimal luteal support in assisted reproductive technology?
  27. The relation between obesity, kisspeptin, leptin, and male fertility
https://doi.org/10.1515/hmbci-2020-0005
Schlagwörter für diesen Artikel
BRCA mutation carriers; fertility; hereditary breast and ovarian cancer syndrome; premature menopause; reproductive decisions

Artikel in diesem Heft

  1. Frontmatter
  2. Special Issue 1: Adenomyosis and Endometriosis: An Update; Edited by René Druckmann and Adolf E. Schindler
  3. Review Articles
  4. The impact of endometriosis on the outcome of assisted reproductive techniques: role of fertility preservation
  5. A narrative review of functional outcomes following nerve-sparing surgery for deeply infiltrating endometriosis
  6. Appropriate surgical management of ovarian endometrioma: excision or drainage?
  7. Diaphragmatic endometriosis and thoracic endometriosis syndrome: a review on diagnosis and treatment
  8. Rates of anastomotic leak and fistula following surgical management of bowel endometriosis: a comparison of shaving, discoid excision, and segmental resection
  9. Endometriosis at all ages: diagnostic ultrasound
  10. Special Issue 2: Fertility Preservation in Cancer Patients and Survivors; Edited by René Druckmann and Adolf E. Schindler
  11. Opinion Paper
  12. Quality of life and sexual dysfunction in gynaecological cancer patients: a psychosomatic approach
  13. Review Articles
  14. Fertility preservation in women with early ovarian cancer
  15. Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues
  16. Fertility preservation in borderline ovarian tumor patients and survivors
  17. Regular Issue
  18. Original Articles
  19. Effects of iron-related compounds and bilirubin on redox homeostasis in endometriosis and its malignant transformations
  20. miR-515-3p, miR-623, miR-1272 and Notch3 protein as new biomarkers of Hepatocellular carcinoma
  21. Combination therapy of calcitriol inhibits the proliferation of breast cancer cells: new concept of nonclassical function of calcitriol
  22. The change pattern in serum G protein-coupled estrogen receptor-1 (GPER1) levels during pregnancy with and without gestational diabetes mellitus
  23. Effects of Helichrysum Psudoplicatum supplementation on pruritus intensity, fatigue, quality of life and anorexia in hemodialysis patients: a randomized, double-blind placebo-controlled trial
  24. The anticancer and free radical scavenging potential of the Unani medicine Agaricus albus L.
  25. Review Articles
  26. What is the optimal luteal support in assisted reproductive technology?
  27. The relation between obesity, kisspeptin, leptin, and male fertility
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