Author/Editor		Škerl, Petra; Krajc, Mateja; Blatnik, Ana; Novaković, Srdjan
Title		Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation
Type		članek
Vol. and No.		Letnik 38, št. 1
Publication year		2017
Volume		str. 279-282
ISSN		1021-335X - Oncology reports
Language		eng
Abstract		Allogenic bone marrow transplant recipients represent a unique challenge, when they are referred for genetic testing and counseling. When performing genetic testing, it is extremely important to ensure that the detected DNA mutations originate from the patients own DNA, and therefore the most appropriate and reliable biological sample for DNA isolation must be obtained. The aim of the present study was to present the germline testing and counseling approach utilized in a rare case of a chimeric woman who received an allogenic bone marrow transplant from a sibling with a germline BRCA1 pathogenic mutation. According to our results, hairs with follicles are a reliable and ready source of DNA in a patient whose blood is of allogenic bone marrow transplant donor origin. Compared with a fibroblast culture, which is more difficult to obtain, the hair follicles are much more accessible and hair sampling is less invasive for the patient. Genetic testing based on the other sources of DNA, such as buccal swabs, is questionable due to the known risk of donor DNA contamination.
Keywords		genetski testi genetsko svetovanje presaditev kostnega mozga DNK allogenic bone marrow transplant chimeric DNA genetic testing genetic counseling