Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2

Wang, Qingxue; Chow, Judy F.C.; Yeung, William S.B.; Lau, Esther Yuet Ying; Lee, Vivian C Y; Ng, Ernest Hung-Yu; Ho, Pak-Chung

doi:10.1007/s10815-014-0355-4

Cited by 9 publications

(9 citation statements)

References 22 publications

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“…The remaining unaffected, good quality, embryos were cryopreserved for quality assessment afterwards. However, this can only be done when the couple involved consented [85,86].…”

Section: Preimplantation Genetic Diagnosis (Pgd)mentioning

confidence: 99%

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Zhang

Niu

Che

et al. 2020

Reprod Biol Endocrinol

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BRCA mutation carriers face various situations that influence their fertility potential. There is still a lack of guideline or expert consensus on Fertility Preservation (FP) in BRCA mutation carriers and the necessity and safety of FP in BRCA mutation carriers is still in dispute. This review aims to focus on the population of BRCA mutation carriers by analyzing the existing FP strategies, comprehensively comparing the pros and cons of each strategy and its applicability. FP is a suggestion for BRCA mutation carriers with birth planning. Different FP strategies have different characteristics. Considering the particularity of BRCA mutation carriers, multiple factors need to be carefully considered. This review focuses on the applicability of each FP method for carriers under various circumstances. Available FP strategies including oocyte cryopreservation, ovarian tissue cryopreservation, preimplantation genetic diagnosis, and egg/embryo donation are analyzed by comparing existing methods comprehensively. In the attempt to provide an up-to-date decision-making guidance. Conditions taking into consideration were the carrier's age, the risk of breast and ovarian metastasis, plans for oncotherapy, FP outcome, time available for FP intervention and accessibility. Overall, FP is necessary and safe for BRCA mutation carriers. Among all available FP methods, oocyte cryopreservation is the most reliable procedure; ovarian tissue cryopreservation is the only way for preserving both fertility and endocrine function, recommended for pre-pubertal carriers and when time is limited for oocyte stimulation. A clear framework provides frontline clinical practitioners a new thought and eventually benefit thousands of BRCA mutation carriers.

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“…The remaining unaffected, good quality, embryos were cryopreserved for quality assessment afterwards. However, this can only be done when the couple involved consented [85,86].…”

Section: Preimplantation Genetic Diagnosis (Pgd)mentioning

confidence: 99%

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Zhang

Niu

Che

et al. 2020

Reprod Biol Endocrinol

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“…After cells are biopsied, they are washed in preparation for the PCR procedure. Among the many other PGT techniques, PCR analysis has been reported in many of such BC-PGT cases,525354 of which some cases then reported the concomitant use of a comparative genomic hybridization or next-generation sequencing for further analysis 5556. Upon analysis completion, the embryos are classified as affected (BRCA1/2 mutation present), unaffected (BRCA1/2 mutation absent), abnormal (abnormal genotype, e.g., haploidy or triploidy), or no testing (no test result or inconclusive BRCA1/2 status).…”

Section: Procedures Of Preimplantation Genetic Testing For Breast Cancermentioning

confidence: 99%

Preimplantation genetic testing for breast cancer

Oribamise¹,

Ashiru

Iloabachie³

et al. 2019

Niger Med J

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Breast cancer (BC), a malignant tumor characterized mainly by a lump in the breast and a change in breast shape, has plagued many women of childbearing age in Nigeria today. This has thus propelled many to find both prophylactic and curative agents to combat BC in affected persons. This article extensively reviews a method of preventing BC in the offspring of affected parents, known as preimplantation genetic testing (PGT) – an assisted reproductive technique that selects genetically unaffected embryo(s) to be transferred to the uterus of a mother upon in vitro fertilization and standard genetic analysis. The present study also seeks to present the techniques involved in PGT that have been reported to prevent the inheritance of BC, its benefits and risks, related case studies in Africa and other continents, and ethical issues surrounding the application of assisted reproduction for BC testing. To achieve these, a thorough search was conducted in reputable scientific journals of reproduction and cancer, and expert knowledge was consulted with regard to these aspects of health and reproduction. Upon reviewing this very important subject, it was confirmed that the beneficial role of assisted reproduction in the field of science and the homes of many cannot be overestimated. This review of the role of PGT in BC prevention will enlighten the understanding of many – creating awareness that with PGT, BC-affected women can have not only children, but also healthy and genetically unaffected children.

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“…The exact genomic deletion breakpoints on the BRCA2 gene were unknown when the patient first presented to us (the breakpoint was subsequently studied-c.7436_7805del [GeneBank U43746]) 1 and the DNA of the patient's parents was unavailable. Therefore we tried to establish the haplotype around the BRCA2 gene with the sibling DNA of the noncarrier sister and carrier brother.…”

Section: Casementioning

confidence: 99%

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

et al. 2016

Hong Kong Med J

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A 33-year-old woman was referred for consideration of PGD because she was a BRCA2 gene mutation carrier. She had cancer of the right breast at the age of 24 years and underwent modified radical mastectomy with axillary dissection and immediate latissimus dorsi flap reconstruction. Adjuvant chemoradiotherapy was given and she was prescribed tamoxifen for 5 years after the operation. Her paternal grandmother had breast cancer diagnosed at the age of 60 years. Genetic screening was performed and confirmed the patient to be a BRCA2 mutation carrier. Her elder brother and her father underwent the spot test and were found to carry a BRCA2 mutation but her younger sister was not affected. Laparoscopic ovarian cystectomy was performed for a hyperechoic cyst noted over the right ovary, which was confirmed to be an endometriotic cyst. After a multidisciplinary meeting of clinical geneticists, breast surgeons, oncologists, gynaecologists, psychologists, nurses, and academics in the ethics department, followed by psychological assessment and also counselling, she was offered in-vitro fertilisation (IVF) and PGD. Her IVF and PGD cycle was performed in 2011, using an antagonist protocol with letrozole co-treatment. Fifteen oocytes were retrieved and 12 were fertilised following intracytoplasmic sperm injection (ICSI). Blastomere biopsy was performed on eight goodquality cleaving embryos and five were confirmed to be free of the BRCA2 mutation. Two unaffected blastocysts were transferred, resulting in a singleton pregnancy and one unaffected blastocyst was cryopreserved. She delivered a baby boy at term by caesarean section. Postnatal cord blood confirmed that the baby boy did not carry the BRCA2 mutation. Case 2A 33-year-old woman was referred for PGD because she was a carrier of FAP truncating germline mutation APC c.532-8G>A (NG_008481:g93262G>A) with a strong family history of colonic cancer. She underwent colonoscopy surveillance and more than 100 small colonic polyps were found. She was advised to have a prophylactic colectomy but was firm in her request to get pregnant with PGD treatment before the definitive treatment while fully understanding the risks of malignancy because of the delay in definitive treatment. She underwent an IVF cycle in 2012. Of 19 oocytes retrieved, 16 underwent ICSI. Fifteen were fertilised and 15 embryos were available for blastomere biopsy on day 3. Five embryos were found without the FAP mutation and four goodquality blastocysts were cryopreserved due to the risk of ovarian hyperstimulation syndrome. She failed to conceive in two frozen embryo transfer (FET) cycles with one blastocyst replaced in each cycle. She subsequently underwent the last FET cycle with two blastocysts transferred, and a consequent singleton pregnancy. The pregnancy is 26 weeks' gestation at the time of writing. The couple refused an invasive prenatal test and requested postnatal cord blood confirmation. Case 3A 37-year-old patient was referred from a clinical geneticist for PGD as her husband was diagnosed to have neuro...

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Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2

Cited by 9 publications

References 22 publications

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review

Preimplantation genetic testing for breast cancer

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

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