Predicting the likelihood that an individual is a BRCA mutation carrier is the first step to genetic counseling, followed by germ-line mutation testing in many family cancer clinics. Individuals... Show morePredicting the likelihood that an individual is a BRCA mutation carrier is the first step to genetic counseling, followed by germ-line mutation testing in many family cancer clinics. Individuals who have been diagnosed as BRCA mutation-positive are offered special medical care; however, clinical management in the case of a negative test result or an unclassified variant in BRCA1 or BRCA2 can be difficult. Since it is estimated that 15% of BRCA mutation carriers are missed by current diagnostics and assessment of the clinical significance of many unclassified variants is complex and time consuming, new strategies are emerging that are able to predict BRCA dysfunction based on molecular tumor information (BRCAness) rather than on family history. This thesis starts with reviewing the importance of BRCA status assessment, followed by the studies performed by SA Joosse in which array comparative genomic hybridization has been utilized for the prediction of the involvement of BRCA in tumorigenesis. Show less
