Literature DB >> 23990319

Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor.

A Sexton1, L Rawlings, M Jenkins, I Winship.   

Abstract

We present a case where an apparently straightforward Lynch syndrome predictive genetic test of DNA from a blood sample from a woman yielded an unexpected result of X/Y chromosome imbalance. Furthermore, it demonstrates the complexities of genetic testing in people who have had bone marrow transplants. This highlights the potential for multiple ethical and counselling challenges, including the inadvertent testing of the donor. Good communication between clinics and laboratories is essential to overcome such challenges and to minimise the provision of false results.

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Year:  2013        PMID: 23990319     DOI: 10.1007/s10897-013-9643-x

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  19 in total

Review 1.  B-cell lymphoma developing in the donor 9 years after donor-origin acute myeloid leukemia post bone marrow transplantation.

Authors:  B Bielorai; H J Deeg; M Weintraub; Y Neumann; E Rosner; N Amariglio; G Rechavi; A Toren
Journal:  Bone Marrow Transplant       Date:  2003-05       Impact factor: 5.483

2.  Multiple primary cancer, including transitional cell carcinoma of the upper uroepithelial tract in a multigeneration HNPCC family: molecular genetic, diagnostic, and management implications.

Authors:  Henry T Lynch; Rodney J Taylor; Jane F Lynch; Joseph A Knezetic; Ali Barrows; Riccardo Fodde; Juul Wijnen; Anja Wagner
Journal:  Am J Gastroenterol       Date:  2003-03       Impact factor: 10.864

3.  The Australasian Colorectal Cancer Family Registry.

Authors:  Ingrid Winship; Aung Ko Win
Journal:  Med J Aust       Date:  2012-11-05       Impact factor: 7.738

4.  The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation.

Authors:  T Lion; F Watzinger; S Preuner; H Kreyenberg; M Tilanus; R de Weger; J van Loon; L de Vries; H Cavé; C Acquaviva; M Lawler; M Crampe; A Serra; B Saglio; F Colnaghi; A Biondi; J J M van Dongen; M van der Burg; M Gonzalez; M Alcoceba; G Barbany; M Hermanson; E Roosnek; C Steward; J Harvey; F Frommlet; P Bader
Journal:  Leukemia       Date:  2012-03-07       Impact factor: 11.528

5.  Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

Authors:  Daniel L Worthley; Michael D Walsh; Melissa Barker; Andrew Ruszkiewicz; Graeme Bennett; Kerry Phillips; Graeme Suthers
Journal:  Gastroenterology       Date:  2005-05       Impact factor: 22.682

Review 6.  Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Authors:  Johanna C Herkert; Renée C Niessen; Maria J W Olderode-Berends; Hermine E Veenstra-Knol; Yvonne J Vos; Heleen M van der Klift; Rene Scheenstra; Carli M J Tops; Arend Karrenbeld; Frans T M Peters; Robert M W Hofstra; Jan H Kleibeuker; Rolf H Sijmons
Journal:  Eur J Cancer       Date:  2011-03-04       Impact factor: 9.162

7.  False negative factor V Leiden assay following allogeneic stem cell transplant.

Authors:  K P Crookston; R Henderson; W L Chandler
Journal:  Br J Haematol       Date:  1998-03       Impact factor: 6.998

8.  Recurrent deep-vein thrombosis based on homozygous factor V Leiden mutation acquired after liver transplantation.

Authors:  Marc Willems; Martina Sterneck; Florian Langer; Roman Jung; Munif Haddad; Christian Hagel; Robert Kuetemeier; Barbara Eifrig; Dieter Broering; Lutz Fischer; Xavier Rogiers
Journal:  Liver Transpl       Date:  2003-08       Impact factor: 5.799

Review 9.  Managing incidental findings in human subjects research: analysis and recommendations.

Authors:  Susan M Wolf; Frances P Lawrenz; Charles A Nelson; Jeffrey P Kahn; Mildred K Cho; Ellen Wright Clayton; Joel G Fletcher; Michael K Georgieff; Dale Hammerschmidt; Kathy Hudson; Judy Illes; Vivek Kapur; Moira A Keane; Barbara A Koenig; Bonnie S Leroy; Elizabeth G McFarland; Jordan Paradise; Lisa S Parker; Sharon F Terry; Brian Van Ness; Benjamin S Wilfond
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

10.  Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Authors:  Robert C Green; Jonathan S Berg; Gerard T Berry; Leslie G Biesecker; David P Dimmock; James P Evans; Wayne W Grody; Madhuri R Hegde; Sarah Kalia; Bruce R Korf; Ian Krantz; Amy L McGuire; David T Miller; Michael F Murray; Robert L Nussbaum; Sharon E Plon; Heidi L Rehm; Howard J Jacob
Journal:  Genet Med       Date:  2012-03-15       Impact factor: 8.822

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