ArticleEuropean journal of human genetics : EJHG2013
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.Human reproduction (Oxford, England) · 2026Observational
- Impact of Breast Cancer and Germline BRCA Pathogenic Variants on Fertility Preservation in Young Women.Life (Basel, Switzerland) · 2023Article
- Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M).Frontiers in genetics · 2022Article
- Identification ofFrontiers in genetics · 2021Article
- Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.Reproductive biology and endocrinology : RB&E · 2020Review
- Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.British journal of cancer · 2018Article
- Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.Oncology letters · 2018Article
- BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.Journal of assisted reproduction and genetics · 2017Article
- Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.International journal of molecular sciences · 2017Review
- Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?Prenatal diagnosis · 2014Review
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation Genetic Diagnosis (PGD) is a method of testing in vitro embryos as an alternative to prenatal diagnosis with possible termination of pregnancy in case of an affected child. Recently, PGD for hereditary breast and ovarian cancer caused by BRCA1 and BRCA2 mutations has found its way in specialized labs. We describe the route to universal single-cell PGD tests for carriers of BRCA1/2 mutations. Originally, mutation-specific protocols with one or two markers were set up and changed when new couples were not informative. This route of changing protocols was finalized after 2 years with universal tests for both BRCA1 and BRCA2 mutation carriers based on haplotyping of, respectively, 6 (BRCA1) and 8 (BRCA2) microsatellite markers in a multiplex PCR. Using all protocols, 30 couples had a total of 47 PGD cycles performed. Eight cycles were cancelled upon IVF treatment due to hypostimulation. Of the remaining 39 cycles, a total of 261 embryos were biopsied and a genetic diagnosis was obtained in 244 (93%). In 34 of the 39 cycles (84.6%), an embryo transfer was possible and resulted in 8 pregnancies leading to a fetal heart beat per oocyte retrieval of 20.5% and a fetal heart beat per embryonic transfer of 23.5%. The preparation time and costs for set-up and validation of tests are minimized. The informativity of microsatellite markers used in the universal PGD-PCR tests is based on CEPH and deCODE pedigrees, making the tests applicable in 90% of couples coming from these populations.
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