Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions | Zendy

Evelyne Vanneste | Zendy; Cindy Melotte | Zendy; Sophie Debrock | Zendy; Thomas D’Hooghe | Zendy; Hilde Brems | Zendy; J. P. Fryns | Zendy; Eric Legius | Zendy; Joris Vermeesch | Zendy

Open Access

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

Author(s) -

Evelyne Vanneste,

Cindy Melotte,

Sophie Debrock,

Thomas D’Hooghe,

Hilde Brems,

J. P. Fryns,

Eric Legius,

Joris Vermeesch

Publication year - 2009

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/dep034

Subject(s) - preimplantation genetic diagnosis , genetic predisposition , cancer , biology , genetics , allele , cancer research , mutation , gene , pregnancy

Neurofibromatosis type 1 (NF1) and Von Hippel-Lindau (VHL) are dominantly inherited late onset cancer predisposition syndromes caused by mutations in the respective tumor suppressor genes (TSGs) NF1 and VHL. Less frequently TSGs are partially or fully deleted. Preimplantation genetic diagnosis (PGD) for cancer predisposition can be applied to select against the mutant allele in carrier couples. However, microdeletions within a single cell can, at present, not be detected by molecular diagnostic methods usually applied for PGD of monogenic disorders.

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