Mutations analysis for a limited set of founder

mutations requires much less time, resources and labor than complete screening of genes, resulting in a Selleckchem GS 1101 significant reduction in cost per mutation detected, and a greater number of mutations will be found. In the present study, eight index cases and their families showed LY333531 datasheet negative results (i.e. no detected mutation in BRCA1 or BRCA2). This can be explained on the basis that, there may be no inherited predisposition to the disease. In addition, failure to detect a mutation does not exclude the possibility that the individual has predisposing BRCA1 or BRCA2 mutation as we did not screen the whole gene. These families, in whom no BRCA mutations have been identified in the proband, have no risk of passing the mutation to their off spring and can be considered to have breast cancer risk equal to that of the general population, if there is no evidence for a breast Selleck RXDX-101 cancer gene inherited from the other side of the family (paternal side) [4]. It is appropriate to offer mutation analysis

to both parents of an individual with a BRCA cancer predisposing mutation. In our study, four affected index cases had mutation in BRCA1 gene, their mothers were died from breast cancer before the beginning of the genetic testing, and they might be obligate carriers for BRCA1 mutation. For sisters of an index case, the risk depends on the genetic status of the index case’s parents. The risk that a sister of an index case will inherit the BRCA1 or BRCA2 mutation is 50%,

if their mother has the mutation. The risk of developing cancer, however, depends upon variables Farnesyltransferase including the peretrance of the mutation, and age of the individual. The BRCA genes are highly peretrant and the studied females had a young age at onset of breast cancer. For daughters of an index case identified as having BRCA1 or BRCA2 mutations, they have a 50% chance of inheriting the mutation. Counseling was offered to each of the studied family. Women who not likely to have inherited a BRCA mutation understand that they remain at risk of developing sporadic breast cancer at a rate roughly equivalent to that of the general population. Women with putative inherited BRCA mutations confer an increased risk of developing breast cancer [44]. For counseling of women identified as having a double heterozygote for mutations in BRCA1 and BRCA2, the risk of transmitting a breast cancer susceptibility gene to any daughters is ¾ [45]. Asymptomatic relatives who test negative for the specific mutation (i.e. do not carry the mutation found in the index cases) are at no increased risk by being related to carriers and have no risk of passing the mutation to their off spring. Conclusion BRCA1 and BRCA2 genes mutations are responsible for a significant proportion of breast cancer. BRCA mutations were found in individuals with and without family history.