Claus
Version 1

Motivation: The eClaus model can be used to calculate mutation risks for BRCA1/2 as well as life-time risks for breast cancer in women from families with multiple and/or early onset cases of breast and ovarian cancer. The model can be used to assist genetic counselors in clinical decision making regarding genetic testing, intensified surveillance, and prophylatic surgery.

Description: The Claus model is a genetic breast cancer risk calculation model assuming a single rare, highly penetrant gene. The extended version of the Claus model (eClaus), as implemented in the commercial pedigree drawing software CYRILLIC 2.1.3, calculates BRCA1/2 mutation probabilities and breast cancer risks for female individuals (test persons) based on their personal and familial cancer histories.

LHA ID: 7Q0CEYUHXW-1

1 item is associated with this Model:

Human Disease: Hereditary breast ovarian cancer syndrome

Model type: Not specified

Model format: R package

Execution or visualisation environment: Shiny


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Claus, E.B. et al. (1991 and 1994)

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Creative Commons Attribution 4.0
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Views: 5350

Created: 1st Apr 2019 at 11:01

Last updated: 27th Nov 2019 at 12:53

Last used: 21st Nov 2024 at 07:14

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Version 1 Created 1st Apr 2019 at 11:01 by Silke Zachariae

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Related items

GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

The German Consortium for Hereditary Breast and Ovarian Cancer HBOC has been founded in 1996 by the German Cancer Aid and has been funded by the German Cancer Aid until recently. GC-HBOC currently comprises 17 university centers providing genetic counseling, histopathological and molecular tissue analysis, genetic testing, and specific structured surveillance programs for early cancer detection at each clinical unit, all based on defined standard operating procedures.

Programme: LIFE Management Cluster

Public web page: http://www.konsortium-familiaerer-brustkrebs.de/

Start date: 1st Jan 1996

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND: Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used … to estimate BRCA1/2 mutation carrier probabilities, have never been comparatively evaluated in a large sample from central Europe. Additionally, a novel version of BOADICEA that incorporates tumour pathology information has not yet been validated. PATIENTS AND METHODS: Using data from 7352 German families we estimated BRCA1/2 carrier probabilities under each model and compared their discrimination and calibration. The incremental value of using pathology information in BOADICEA was assessed in a subsample of 4928 pedigrees with available data on breast tumour molecular markers oestrogen receptor, progesterone receptor and human epidermal growth factor 2. RESULTS: BRCAPRO (area under receiver operating characteristic curve (AUC)=0.80 (95% CI 0.78 to 0.81)) and BOADICEA (AUC=0.79 (0.78-0.80)), had significantly higher diagnostic accuracy than IBIS and eCLAUS (p<0.001). The AUC increased when pathology information was used in BOADICEA: AUC=0.81 (95% CI 0.80 to 0.83, p<0.001). At carrier thresholds of 10% and 15%, the net reclassification index was +3.9% and +5.4%, respectively, when pathology was included in the model. Overall, calibration was best for BOADICEA and worst for eCLAUS. With eCLAUS, twice as many mutation carriers were predicted than observed. CONCLUSIONS: Our results support the use of BRCAPRO and BOADICEA for decision making regarding genetic testing for BRCA1/2 mutations. However, model calibration has to be improved for this population. eCLAUS should not be used for estimating mutation carrier probabilities in clinical settings. Whenever possible, breast tumour molecular marker information should be taken into account.

Authors: C. Fischer, K. Kuchenbacker, C. Engel, S. Zachariae, K. Rhiem, A. Meindl, N. Rahner, N. Dikow, H. Plendl, I. Debatin, T. Grimm, D. Gadzicki, R. Flottmann, J. Horvath, E. Schrock, F. Stock, D. Schafer, I. Schwaab, C. Kartsonaki, N. Mavaddat, B. Schlegelberger, A. C. Antoniou, R. Schmutzler

Date Published: 9th Apr 2013

Publication Type: Not specified

Human Diseases: hereditary breast ovarian cancer syndrome

hereditary breast ovarian cancer syndrome
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Taxonomy URI: http://purl.obolibrary.org/obo/DOID_5683

Synonyms: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)

Definitions: Xref MGI., An autosomal dominant disease characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.

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