2013
DOI: 10.1038/ejhg.2013.50
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PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

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… Show more

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Cited by 21 publications
(11 citation statements)
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“…Embryo biopsy was performed on day 3 after fertilization. Single-cell analysis of the removed blastomeres was performed using multiplex polymerase chain reaction (PCR), as described elsewhere [ 20 , 25 , 26 ]. Data were extracted from medical files.…”
Section: Methodsmentioning
confidence: 99%
“…Embryo biopsy was performed on day 3 after fertilization. Single-cell analysis of the removed blastomeres was performed using multiplex polymerase chain reaction (PCR), as described elsewhere [ 20 , 25 , 26 ]. Data were extracted from medical files.…”
Section: Methodsmentioning
confidence: 99%
“…Women or men who have been found to be carriers for cancer‐predisposing mutations in these genes through family‐history‐based testing or because of a personal history of cancer may request prenatal or preimplantation genetic diagnosis for the mutation they carry. Interestingly, despite the Myriad patents, preimplantation genetic diagnosis for BRCA mutations has already been offered in the USA and Europe, and experience with PGD for BRCA1/2 mutations in 717 embryos from 154 cycles on 70 couples was presented at a recent meeting . Hence, we do not anticipate that there will be a significant change in this practice.…”
Section: Implications For Preimplantation and Prenatal Diagnosismentioning
confidence: 99%
“…Pregnancy termination may be considered an extreme action taken for a deaf fetus, and therefore preimplantation genetic diagnosis (PGD) has become an important option for avoiding the birth of affected children without risking abortion following prenatal diagnosis ( 9 , 10 ). PGD is not only used for single gene disorders (SGDs) ( 8 ) but is also used for human leukocyte antigen matching ( 10 ) and inherited types of cancer ( 11 ). The primary goal of PGD is to aid parents who are attempting to conceive healthy offspring.…”
Section: Introductionmentioning
confidence: 99%