Probability estimation models for prediction of BRCA1 and BRCA2 mutation carriers: COS compares favourably with other models

Roudgari, Hassan; Miedzybrodzka, Æ Zosia H.; Haites, Neva Elizabeth

doi:10.1007/s10689-007-9176-2

Cited by 11 publications

(7 citation statements)

References 34 publications

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“…The score was derived from two datasets and validated in a third 9 14. Although initially used to discriminate for each BRCA gene in isolation at the 10% detection threshold, a combined score for mutation prediction for both genes has now also been validated 12 13 14. In our clinics, we use a combined score of 16 points for the 10% threshold and 20 points for the 20% threshold of mutation probability.…”

Section: Methodsmentioning

confidence: 99%

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Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

Evans

Lalloo

Cramer

et al. 2009

Journal of Medical Genetics

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Section: Methodsmentioning

confidence: 99%

“…9 This development was undertaken primarily because existing systems were either laborious or had little validation. Since that time, the Manchester scoring system has compared well with existing models such as BRCAPRO and Myriad as well as the newer BOADICEA model 9 10 11 12 13…”

mentioning

confidence: 99%

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

Evans

Lalloo

Cramer

et al. 2009

Journal of Medical Genetics

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“…However, the area under the receiver operator characteristic was numerically better at 0.71 [95% confidence interval (CI), 0.65-0.78] for C.O.S., than the 0.67 (95% CI, 0.60-0.73) for BRCAPRO, suggesting that COS was better able to distinguish between families with and without a deleterious mutation but overestimated the probability of mutation. Also the COS software for Scotland was compared with other genetic models to estimate the probability of BRCA mutation, showing higher sensitivity and slightly lower specificity (48).…”

Section: Methodsmentioning

confidence: 99%

Oral Contraceptive Use and BRCA Penetrance: A Case-Only Study

Pasanisi

Hédelin

Berrino

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Women with deleterious mutations in BRCA genes are at increased risk of breast cancer. However, the penetrance of the genetic trait may be regulated through environmental factors. This multinational case-only study tested the interaction between oral contraceptive use and genetic susceptibility in the occurrence of breast cancer. Methods: We recruited 3,123 patients diagnosed with breast cancer before the age of 45 years. Participants were classified according to their probability of carrying a BRCA mutation on the basis of their family history of breast and ovarian cancer. According to a case-only approach, the frequency of relevant exposures among breast cancer cases with high probability of BRCA mutation (''genetic cases'') was compared with the frequency of the same exposures among breast cancer cases with a low probability of BRCA mutation (''sporadic cases''). The interaction odds ratios (OR)

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“…Since BC incidence has increased over generations, both in the general population [41] and in mutation carriers [42][43][44][45], we estimated age and birth cohort-specific BC incidence and penetrance rates [31,46,47]. Software results compare favourably with respect to the more widely used BRCAPRO [48].…”

Section: Software To Compute Probability Of Mutationmentioning

confidence: 99%

Serum levels of IGF-I and BRCA penetrance: a case control study in breast cancer families

et al. 2011

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High serum levels of insulin-like growth factor I (IGF-I) are associated with an increased risk of sporadic breast cancer (BC). The aim of the present work is to evaluate the association between IGF-I and hereditary BC risk, using a case-control approach. The work represents an "ad interim" cross-sectional analysis of an ongoing study with a prospective design whose aim is to recruit a cohort of women belonging to high genetic risk families to test potential modulators of penetrance and prognosis. The odd of exposure to high serum IGF-I levels among women with a previous diagnosis of BC ("cases") was compared with the odd among unaffected "controls". The odds ratio (OR) and 95% confidence intervals (CIs) were estimated by unconditional logistic regression, controlling for confounders. We analysed 308 women (209 cases and 99 controls) at high genetic risk of BC. The adjusted OR of BC for the upper tertile of serum IGF-I versus the lowest one was 3.5 (95%CI 1.4-8.8). Excluding from the analysis 64 women under current Tamoxifen or GnRH analogues treatment, the adjusted OR of BC became 3.7 (95%CI 1.4-9.9). The association became stronger restricting the analysis to the 161 women (97 cases and 64 controls) with a proven BRCA mutation. If confirmed by a prospective approach, the association between IGF-I and familial BC will open further options for reducing BC risk in susceptible women.

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Probability estimation models for prediction of BRCA1 and BRCA2 mutation carriers: COS compares favourably with other models

Abstract: The COS and MSS models are the most effective models for use in clinical practice to select families for mutation analysis, but BOADICEA and T-C are more accurate for estimating mutation prevalence within a population.

Cited by 11 publications

References 34 publications

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

Oral Contraceptive Use and BRCA Penetrance: A Case-Only Study

Serum levels of IGF-I and BRCA penetrance: a case control study in breast cancer families

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