The woman's family history is used to calculate the likelihood of her carrying an adverse gene, which in turn affects her likelihood of developing breast cancer. The program assumes that there is a gene predisposing to breast cancer in addition to the BRCA1/2 genes. None of the penetrance estimates was significantly different from previous estimates, suggesting that previous estimates may be appropriate for counselling in this population.Description of breast cancer risk program The estimated risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers were consistent with previously published estimates.ĬONCLUSION: The BOADICEA model predicts accurately the carrier probabilities in French-Canadian families and may be used for counselling in this population. Receiver operating characteristic (ROC) curves indicate similar sensitivity and specificity for BRCAPRO and BOADICEA. However, it discriminated well between carriers and noncarriers. It significantly overestimated the carrier frequency for high predicted probabilities. BRCAPRO over-predicted the number of mutations in almost all groups of families, in particular the number of BRCA1 mutations. RESULTS: The BOADICEA model predicted accurately the number of BRCA1 and BRCA2 mutations for the various groups of families, and was found to discriminate well at the individual level between carriers and noncarriers. Twenty-five families were eligible for inclusion in the BRCA1 penetrance analysis and 27 families were eligible for the BRCA2 penetrance analysis. Log relative risks for breast and ovarian cancer in mutation carriers versus population risks were estimated by maximum likelihood, using a modified segregation analysis implemented in the computer program MENDEL. The models were assessed using Brier scores, attributes diagrams and receiver operating characteristic curves. Observed BRCA1 and BRCA2 mutation status was compared with predicted carrier probabilities under the BOADICEA and BRCAPRO models. METHODS: A total of 195 families with multiple affected individuals with breast or ovarian cancer were recruited through the INHERIT (INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility) BRCAs research program. We also used this data set to estimate the age-specific risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. We used data from French-Canadian families to evaluate the mutation predictions given by the BRCAPRO and BOADICEA models. INTRODUCTION: Several genetic risk models for breast and ovarian cancer have been developed, but their applicability to specific populations has not been evaluated.
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September 2023
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