Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

Pre-preimplantation genetic diagnosis workup and preimplantation genetic diagnosis cycle Case 1 The exact genomic deletion breakpoints on theBRCA2 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 p...

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Published in:Hong Kong medical journal = Xianggang yi xue za zhi 2016-06, Vol.22 (3), p.289-291
Main Authors: Lee, V Cy, Chow, J Fc, Lau, E Yl, Kwong, A, Leung, S Y, Yeung, W Sb, Ho, P C, Ng, E Hy
Format: Article
Language:English
Subjects:
Amniocentesis
Biopsy
Breast cancer
Colorectal cancer
Counseling
Cysts
Embryology
Embryos
Haplotypes
Mutation
Ovarian cancer
Pregnancy
Sperm
Surveillance
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Summary:Pre-preimplantation genetic diagnosis workup and preimplantation genetic diagnosis cycle Case 1 The exact genomic deletion breakpoints on theBRCA2 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. [...]we tried to establish the haplotype around the BRCA2 gene with the sibling DNA of the non-carrier sister and carrier brother. [...]the high-risk haplotype was delineated by haplotype analysis of single sperms from her carrier brother. The use of letrozole to suppress the oestradiol concentration during IVF has been successful; some large case series have reported a comparable breast cancer recurrence rate in those who did and did not undergo IVF.10 11 A case-control study also revealed that even without letrozole, IVF treatment does not appear to increase the chance of breast cancer in BRCA gene mutation carriers.12 The use of prenatal invasive tests, such as chorionic villus sampling and amniocentesis, to confirm PGD results is controversial in adult-onset diseases with incomplete penetrance with the need for termination of pregnancy if the fetus is affected.13In our case series, only one couple out of three accepted the use of invasive prenatal tests and the possibility of termination. The pros and cons of postnatal testing were discussed. Since the risk of extra-colonic malignancies, such as hepatoblastoma, in FAP families is about 500
ISSN:1024-2708
2226-8707
DOI:10.12809/hkmj144499