Literature DB >> 32212026

Navigating the body of literature assessing BRCA1/2 mutations and markers of ovarian function: a systematic review and meta-analysis.

Christina N Cordeiro Mitchell1, Bailey McGuinness2, Eliana Fine3, William G Kearns4,5, Mindy S Christianson4, James Segars4, Lisa M Pastore6.   

Abstract

PURPOSE: Twelve percent of women in the USA will develop invasive breast cancer in their lifetime, and that risk increases to 80% if they carry a BRCA1 or BRCA2 mutation. BRCA1/2 mutations are thought to potentially affect ovarian reserve and/or fertility.
METHODS: PubMed and PubMed Central were searched for publications on ovarian reserve-related outcomes (i.e., AMH and response to controlled ovarian hyperstimulation (COH) protocols) that were reported in relation to BRCA1 and/or BRCA2 mutations from 1950 through May 2019. A meta-analysis was conducted to create forest plots and summary effect measures using Review Manager 5.3.
RESULTS: This article reviews the 16 qualifying publications. There were several fundamental methodological differences in the study designs and outcome details reported in AMH studies. Summary statistics found no difference in AMH levels between BRCA1/2+ women as compared with controls (Z overall test effects p ≥ 0.45). Regarding responses to COH, there were overall non-significantly fewer total and mature numbers of oocytes retrieved in BRCA1/2+ cases as compared with controls (meta-analysis Z overall test effects p ≥ 0.40).
CONCLUSIONS: While the summary measures indicate no significant differences in AMH levels between BRCA1/2+ cases and controls, readers should be aware that there are significant methodological differences in the AMH reports. Additionally, the response to COH protocols does not seem to be significantly lower in BRCA1/2 mutation carriers in the existing literature. Continued research on both of these clinical parameters would be beneficial for patient counseling.

Entities:  

Keywords:  BRCA1 mutation; BRCA2 mutation; anti mullerian hormone; controlled ovarian hyperstimulation; in vitro fertilization; ovarian reserve

Mesh:

Substances:

Year:  2020        PMID: 32212026      PMCID: PMC7244648          DOI: 10.1007/s10815-020-01745-2

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  34 in total

1.  A role for Brca1 in chromosome end maintenance.

Authors:  J Peter McPherson; M Prakash Hande; Anuradha Poonepalli; Benedicte Lemmers; Elzbieta Zablocki; Eva Migon; Amro Shehabeldin; Annaliza Porras; Jana Karaskova; Bisera Vukovic; Jeremy Squire; Razqallah Hakem
Journal:  Hum Mol Genet       Date:  2006-01-30       Impact factor: 6.150

2.  BRCA1 localization to the telomere and its loss from the telomere in response to DNA damage.

Authors:  Rahul D Ballal; Tapas Saha; Saijun Fan; Bassam R Haddad; Eliot M Rosen
Journal:  J Biol Chem       Date:  2009-09-21       Impact factor: 5.157

3.  The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.

Authors:  C Oddoux; J P Struewing; C M Clayton; S Neuhausen; L C Brody; M Kaback; B Haas; L Norton; P Borgen; S Jhanwar; D Goldgar; H Ostrer; K Offit
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

4.  Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

Authors:  Kathleen E Malone; Janet R Daling; David R Doody; Li Hsu; Leslie Bernstein; Ralph J Coates; Polly A Marchbanks; Michael S Simon; Jill A McDonald; Sandra A Norman; Brian L Strom; Ronald T Burkman; Giske Ursin; Dennis Deapen; Linda K Weiss; Suzanne Folger; Jennifer J Madeoy; Danielle M Friedrichsen; Nicola M Suter; Mariela C Humphrey; Robert Spirtas; Elaine A Ostrander
Journal:  Cancer Res       Date:  2006-08-15       Impact factor: 12.701

5.  In search of the tumour-suppressor functions of BRCA1 and BRCA2.

Authors:  R Scully; D M Livingston
Journal:  Nature       Date:  2000-11-23       Impact factor: 49.962

6.  Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Authors:  Harvey A Risch; John R McLaughlin; David E C Cole; Barry Rosen; Linda Bradley; Isabel Fan; James Tang; Song Li; Shiyu Zhang; Patricia A Shaw; Steven A Narod
Journal:  J Natl Cancer Inst       Date:  2006-12-06       Impact factor: 13.506

7.  Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.

Authors:  Kutluk Oktay; Ja Yeon Kim; David Barad; Samir N Babayev
Journal:  J Clin Oncol       Date:  2009-12-07       Impact factor: 44.544

8.  Disruption of BRCA1 function results in telomere lengthening and increased anaphase bridge formation in immortalized cell lines.

Authors:  Juliet D French; Jasmyn Dunn; Chanel E Smart; Nathan Manning; Melissa A Brown
Journal:  Genes Chromosomes Cancer       Date:  2006-03       Impact factor: 5.006

9.  Potential implications on female fertility and reproductive lifespan in BRCA germline mutation women.

Authors:  Begoña Díaz de la Noval
Journal:  Arch Gynecol Obstet       Date:  2016-08-25       Impact factor: 2.344

10.  Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both.

Authors:  Miguel de la Hoya; Juan M Fernández; Alicia Tosar; Javier Godino; Ana Sánchez de Abajo; Jose A Vidart; Pedro Pérez-Segura; Eduardo Díaz-Rubio; Trinidad Caldés
Journal:  JAMA       Date:  2003-08-20       Impact factor: 56.272

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  2 in total

1.  The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status.

Authors:  Drechsel Katja C E; van Tilborg Theodora C; Eijkemans Marinus J C; Lentjes Eef G W M; Homminga Irene; Goddijn Mariette; van Golde Ron J T; Verpoest Willem; Lichtenbelt Klaske D; Broekmans Frank J M; Bos Anna M E
Journal:  Reprod Sci       Date:  2022-06-15       Impact factor: 3.060

2.  Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis.

Authors:  Łukasz Kępczyński; Katarzyna Połatyńska; Anna Nykel; Jordan Sałamunia; Tadeusz Kałużewski; Andrzej Kużawczyk; Agnieszka Gach
Journal:  Prz Menopauzalny       Date:  2021-01-07
  2 in total

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