Preimplantation genetic diagnosis for BRCA1/2—a novel clinical experience
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Summary
To describe the 2‐year experience with preimplantation genetic diagnosis for carriers of mutations in the genes BRCA1 and BRCa2, the dilemmas incurred and the lessons learned are described.
- Type
- article
- Published
- 2009-05-01
- Cited by
- 72
- References
- 34
- OpenAlex
- https://openalex.org/W2119327768
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:46212762
Keywords
Preimplantation genetic diagnosis, Genetic counseling, Infertility, In vitro fertilisation, Medicine
References
- Management of Women at Increased Risk for Hereditary Breast Cancer
- The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.
- International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk
- Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine.
- The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.
- Family communication about positive BRCA1 and BRCA2 genetic test results
- Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors
- The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
- A prospective controlled study of karyotyping for 430 consecutive babies conceived through intracytoplasmic sperm injection.
- Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case–control study
- Preimplantation genetic diagnosis for cancer predisposition syndromes
- Testing Participation in BRCA1/2-Positive Families: Initiator Role of Index Cases
- The Tyr978X BRCA1 Mutation in Non-Ashkenazi Jews: Occurrence in High-Risk Families, General Population and Unselected Ovarian Cancer Patients
- Genetic counseling about reproductive options for hereditary cancer: what is the standard of care?
- What do women really want to know? Motives for attending familial breast cancer clinics
- Preimplantation diagnosis for Fanconi anemia combined with HLA matching.
- Genetic Testing for Susceptibility to Breast Cancer: Findings from Women's Focus Groups
- Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection.
- The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
- Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers
Cited by
- Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer
- Fertility preservation and breast cancer: a review
- Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase
- Management of early invasive breast cancer in very young women (<35 years).
- Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain
- Breast Cancer and Fertility
- Preimplantation Diagnosis for Single Gene Disorders
- PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers
- Advances in preimplantation genetic diagnosis/screening
- Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors
- Lessons learned from genetic testing.
- Fertility preservation and breast cancer: A complex problem.
- Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.
- Breast cancer and genetics.
- Preserving fertility in patients undergoing treatment for breast cancer: current perspectives
- Current approach to fertility preservation by embryo cryopreservation
- High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis
- ‘My funky genetics’: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new repro-genetic technologies
- Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2
- BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis
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