ArticleJournal of assisted reproduction and genetics1998
Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli.
Article in Journal of assisted reproduction and genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 143 citations in OpenAlex.
- Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.The American journal of gastroenterology · 2026Review
- Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease.BMC genomics · 2024Article
- Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges.Cancer pathogenesis and therapy · 2024Review
- Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.Journal of genetic counseling · 2017Article
- Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.Familial cancer · 2017Article
- Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.International journal of molecular sciences · 2017Review
- Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Knowledge and Educational Needs about Pre-Implantation Genetic Diagnosis (PGD) among Oncology Nurses.Journal of clinical medicine · 2014Article
- 100 years Lynch syndrome: what have we learned about psychosocial issues?Familial cancer · 2013Review
- Views of internists towards uses of PGD.Reproductive biomedicine online · 2013Article
- Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome.Familial cancer · 2011Article
- Whole genome amplification in preimplantation genetic diagnosis.Journal of Zhejiang University. Science. B · 2011Review
- Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis.European journal of human genetics : EJHG · 2010Article
- Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer.Familial cancer · 2009Article
- The biology of infertility: research advances and clinical challenges.Nature medicine · 2008Review
- In vitro fertilization (IVF): a review of 3 decades of clinical innovation and technological advancement.Therapeutics and clinical risk management · 2006Article
- Molecular diagnostics in preimplantation genetic diagnosis.The Journal of molecular diagnostics : JMD · 2002Review
- Direct comparison of detection systems used for the development of single-cell genetic tests in preimplantation genetic diagnosis.Journal of assisted reproduction and genetics · 2001Article
- Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis.Journal of assisted reproduction and genetics · 1998Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeOur purpose was to achieve preimplantation genetic diagnosis (PGD) of the dominant cancer predisposition syndrome, familial adenomatous polyposis coli (FAPC), as an alternative to prenatal diagnosis.
methodsThe affected patient was superovulated and oocytes were retrieved and fertilized by intracytoplasmic sperm injection (ICSI). Two cells were biopsied from each embryo and the whole genome was amplified by primer extension preamplification (PEP). Nested PCR was then used to amplify two APC fragments: one including the APC mutation site and the other an informative intragenic polymorphism. Both were detected by simultaneous single-strand conformation polymorphism and heteroduplex analysis.
resultsFour normally fertilized embryos were biopsied on day 3 post ICSI, and two cells were successfully removed from each embryo. Following PEP the APC mutation was successfully amplified in 7 of 8 cells, and the polymorphism in 6 of 8 cells. The APC mutation was detected in three embryos. This result was confirmed by identification of the mutation associated polymorphism in two cases. A single embryo was diagnosed as homozygous normal for the mutation and the polymorphism in both cells sampled. This unaffected embryo was transferred to the mother, but no pregnancy resulted.
conclusionsWe report here the first diagnosis of a cancer predisposition syndrome in human preimplantation embryos. Our results indicate that difficulties associated with single-cell PCR, allele-specific amplification failure in particular, need not prevent preimplantation diagnosis of diseases with a dominant mode of inheritance, provided appropriate strategies are applied.
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