Author/Editor		Krajc, Mateja
Title		Mutational analysis of the BRCA-1 and BRCA-2 genes in Slovenian families with a high incidence of breast and/or ovarian cancer and investigation of feasibility and the moral implications of counseling of these families in Slovenia
Type		monografija
Place		Brussel
Publisher		Fakulteit Geneeskunde en Farmacie
Publication year		2000
Volume		str. 65
Language		eng
Abstract		We are implementing predictive genetic testing in Slovene breast and/or ovarian cancer families. The counseling is, whenever possible, based on the mutation analysis of cancer predisposition genes according to the familial cancer phenotype. In these families the BRCA-1 and BRCA-2 genes are analyzed for cancer causing mutations. After the mutation is identified, it is used for individual counseling, including presymptomatic family members. In this pilot project we are investigating whether and which type of BRCAI/2 mutations occur in the Slovenian families. The relatively homogenous ethnic origin ofthe Slovenian population raises the possibility of a founder mutation, which would make subsequent testing and risk prediction substantially easier. Eight Slovenian families already registered as predisposed for breast and/or ovarian cancer have been selected according to the minimal AZ-VUB intake criteria for BRCA testing: at least 2 first degree relatives with breast and/or ovarian cancer. The two BRCA genes were then analyzed with various screening methods in the Laboratory of Medical Oncology in the Center of the Medical Genetics of the VUB. An extensive screen for mutations in the BRCA 1/2 genes of afflicted individuals so far did not reveal any mutations, raising the possibility of an unusual mutation in BRCAI/2 or BRCAX (still not known BRCA gene) which escapes detection by our current screening techniques. Pre- and post- testing counseling is done by Slovenian doctors in a cooperation of the VUB Familial Cancer Team. The counseling sessions were tape recorded with the permission of the patients and the counselors and moral concems are being identified using the grounded theory approach in the qualitative analysis of verbal transcripts of counseling sessions. (Abstract truncated at 2000 characters)
Descriptors		BREAST NEOPLASMS OVARIAN NEOPLASMS GENES, BRCA1 PHENOTYPE DNA MUTATIONAL ANALYSIS HETEROZYGOTE DETECTION POLYMERASE CHAIN REACTION EXONS FEASIBILITY STUDIES FAMILY GENETIC COUNSELING SLOVENIA