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German Consortium for Hereditary Breast and Ovarian Cancer

Overview
Motivation:

The aim of the GC-HBOC is to improve the cinical care of patients with a family history of breast and ovarian cancer in Germany through a network of specialised university centers providing structured interdisciplinary care. Furthermore, GC-HBOC collects comprehensive data on patients and families in a standardized manner, in order to promote research on hereditary breast and ovarian cancer.

Description:

The German Consortium for Hereditary Breast and Ovarian Cancer (GC-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: Epidemiology

LHA-ID: 7Q0CE8DEEW-2

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

Organisms: No Organisms specified

Human Diseases: Hereditary breast ovarian cancer syndrome

Leipzig Health Atlas PALs: Christoph Engel

Project start date: 1st Jan 1996

Related items

Christoph Engel palproject_administrator

Projects: German Consortium for Hereditary Breast and Ovarian Cancer, LIFE Adult, German Consortium for Hereditary Non-Polyposis Colorectal Cancer

Institutions: Institute for Medical Informatics, Statistics and Epidemiology

https://orcid.org/0000-0002-7247-282X
René Hänsel adminproject_administratorasset_housekeeperasset_gatekeeperprogramme_administrator

Projects: Leipzig Health Atlas, German Consortium for Hereditary Breast and Ovarian Cancer, LIFE- Leipzig Research Center for Civilization Diseases, LIFE Adult, German Lymphoma Alliance (GLA), LIFE Head and Neck Cancer Group, Footprints of Sepsis Framed Within Community Acquired Pneumonia in the Blood Transcriptome, Genetical Statistics and Systems Biology, Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome, German Consortium for Hereditary Non-Polyposis Colorectal Cancer, German Glioma Network, German Competence Network Sepsis (SepNet), Natural Language Processing for Clinical Research, LIFE Heart, Molecular mechanisms in malignant lymphoma, Molecular Mechanisms in Malignant Lymphomas - Demonstrators of Personalized Medicine, Individualized model-based managing of the next-cycle thrombopenia of CHOEP/CHOP treated patients based on platelets dynamics during the previous cycles, LIFE Child, MMML-MYC-SYS, ProstataCA, COVID-19 Leipzig

Institutions: Institute for Medical Informatics, Statistics and Epidemiology

https://orcid.org/0000-0001-8344-0658
Silke Zachariae asset_housekeeperasset_gatekeeper

Projects: German Consortium for Hereditary Breast and Ovarian Cancer, LIFE Adult, German Consortium for Hereditary Non-Polyposis Colorectal Cancer, LIFE Heart

Institutions: Institute for Medical Informatics, Statistics and Epidemiology

https://orcid.org/0000-0003-1614-8790
BOADICEA reinvitation predictor
German Consortium for Hereditary Breast and Ovarian Cancer
No description specified

Creators: Silke Zachariae, Christoph Engel

Submitter: Silke Zachariae

Manchester Scoring System
German Consortium for Hereditary Breast and Ovarian Cancer

Motivation:
The "Manchester Scoring System" can be used to assist clinicians and genetic counselors in the clinical management of families suspected of having hereditary breast and ovarian cancer and to decide whether genetic testing should be performed.

Description:
The "Manchester Scoring System" is an empirical mutation risk prediction model. In its current form, a risk score for the identification of a pathogenic BRCA1/2 mutation is being calculated based on the number of breast and ovarian
...

Creators: Silke Zachariae, Christoph Engel, Evans, D.G. et al. (2009)

Submitter: Silke Zachariae

GC-HBOC BC Risk Explorer
German Consortium for Hereditary Breast and Ovarian Cancer

The GC-HBOC BC Risk Explorer (GC-HBOC BC-RE) predicts the breast cancer risk for BRCA1/2 carriers and high-risk non-carriers at risk for first breast cancer (cohort 1), and BRCA1/2 carriers and high-risk non-carriers who were previously diagnosed with unilateral breast cancer, and are at risk for contralateral breast cancer (cohort 2). GC-HBOC BC-RE is based on data from female BRCA1/2 carriers and non-carriers with a family history of breast and ovarian cancer, who participated in the intensified
...

Creators: Silke Zachariae, Christoph Engel

Submitter: Silke Zachariae

Claus
German Consortium for Hereditary Breast and Ovarian Cancer

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.
...

Creators: Silke Zachariae, Christoph Engel, Claus, E.B. et al. (1991 and 1994)

Submitter: Silke Zachariae

GC-HBOC Mutation Frequency Explorer
German Consortium for Hereditary Breast and Ovarian Cancer

Motivation:
The "GC-HBOC Mutation Frequency Explorer" can be used to assist clinicians and genetic counselors in the clinical management of families suspected of having hereditary breast and ovarian cancer and to decide whether genetic testing should be performed.

Description:
The "GC-HBOC Mutation Frequency Explorer" is a tool to determine the observed frequencies of pathogenic BRCA1 and BRCA2 mutations based on familial cancer history data collected since 1996 by the German Consortium for
...

Creators: Silke Zachariae, Christoph Engel

Submitter: Silke Zachariae

External Link
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Comparably little is known about breast cancer (BC) risks in women from families tested negative for BRCA1/2 mutations despite an indicative family history, as opposed to BRCA1/2 mutation carriers. We … determined the age-dependent risks of first and contralateral breast cancer (FBC, CBC) both in noncarriers and carriers of BRCA1/2 mutations, who participated in an intensified breast imaging surveillance program. The study was conducted between January 1, 2005, and September 30, 2017, at 12 university centers of the German Consortium for Hereditary Breast and Ovarian Cancer. Two cohorts were prospectively followed up for incident FBC (n = 4,380; 16,398 person-years [PY], median baseline age: 39 years) and CBC (n = 2,993; 10,090 PY, median baseline age: 42 years). Cumulative FBC risk at age 60 was 61.8% (95% CI 52.8-70.9%) for BRCA1 mutation carriers, 43.2% (95% CI 32.1-56.3%) for BRCA2 mutation carriers and 15.7% (95% CI 11.9-20.4%) for noncarriers. FBC risks were significantly higher than in the general population, with incidence rate ratios of 23.9 (95% CI 18.9-29.8) for BRCA1 mutation carriers, 13.5 (95% CI 9.2-19.1) for BRCA2 mutation carriers and 4.9 (95% CI 3.8-6.3) for BRCA1/2 noncarriers. Cumulative CBC risk 10 years after FBC was 25.1% (95% CI 19.6-31.9%) for BRCA1 mutation carriers, 6.6% (95% CI 3.4-12.5%) for BRCA2 mutation carriers and 3.6% (95% CI 2.2-5.7%) for noncarriers. CBC risk in noncarriers was similar to women with unilateral BC from the general population. Further studies are needed to confirm whether less intensified surveillance is justified in women from BRCA1/2 negative families with elevated risk.

Authors: C. Engel, C. Fischer, S. Zachariae, K. Bucksch, K. Rhiem, J. Giesecke, N. Herold, B. Wappenschmidt, V. Hubbel, M. Maringa, S. Reichstein-Gnielinski, E. Hahnen, C. R. Bartram, N. Dikow, S. Schott, D. Speiser, D. Horn, E. M. Fallenberg, M. Kiechle, A. S. Quante, A. S. Vesper, T. Fehm, C. Mundhenke, N. Arnold, E. Leinert, W. Just, U. Siebers-Renelt, S. Weigel, A. Gehrig, A. Wockel, B. Schlegelberger, S. Pertschy, K. Kast, P. Wimberger, S. Briest, M. Loeffler, U. Bick, R. K. Schmutzler

Date Published: 13th May 2019

Publication Type: Not specified

Human Diseases: hereditary breast ovarian cancer syndrome

An integrative web platform for user-friendly application of risk prediction models in hereditary cancer predisposition
German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Background and Objective: Predicting individual mutation and cancer risks is essential to assist genetic counsellors in clinical decision making for patients with a hereditary cancer predisposition. … Worldwide a variety of statistical models and empirical data for risk prediction have been developed and published for hereditary breast and ovarian cancer (HBOC), and hereditary non-polyposis colorectal cancer (HNPCC / Lynch syndrome, LS). However, only few models have so far been implemented in convenient and easy-to-use computer applications. We therefore aimed to develop user-friendly applications of selected HBOC and LS risk prediction models, and to make them available through the "Leipzig Health Atlas" (LHA), a web-based multifunctional platform to share research data, novel ontologies, models and software tools with the medical and scientific community. LHA is a project funded within the BMBF initiative "i:DSem – Integrative data semantics in system medicine". Methods and Results: We selected a total of six statistical models and empirical datasets relevant for HBOC and LS: 1) the Manchester Scoring System, 2) the "Mutation Frequency Explorer" of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), 3) an extended version of the Claus model, 4) MMRpredict, 5) PREMM1,2,6, and 6) PREMM5. The Manchester Scoring System allows calculation of BRCA1/2 mutation probabilities based on aggregated family history. The "Mutation Frequency Explorer" allows flexible assessment of mutation risks in BRCA1/2 and other genes for different sets of familial cancer histories based on a large dataset from the GC-HBOC. The extended Claus model (as implemented in the commercial predigree drawing software Cyrillic 2.1.3, which is no longer supported and no longer works on newer operating systems) predicts both mutation and breast cancer risks based on structured pedigree data. MMRpredict, PREMM 1,2,6, and PREMM 5 predict mutation risks in mismatch repair genes for patients from families suspected of having LS. All models were implemented using the statistical software "R" and the R-package "Shiny". "Shiny" allows the development of interactive applications by incorporating "R" with HTML and other web technologies. The Shiny apps are accessible on the website of the "Leipzig Health Atlas" (https://www.health-atlas.de) for registered researchers and genetic counselors. Conclusions: The risk prediction apps allow convenient calculation of mutation or cancer risks for an advice-seeking individual based on pedigree data or aggregated information on the familial cancer history. Target users should be specialized health professionals (physicians and genetic counselors) and scientists to ensure correct handling of the tools and careful interpretation of results.

Authors: Silke Zachariae, Sebastian Stäubert, C. Fischer, Markus Löffler, Christoph Engel

Date Published: 8th Mar 2019

Publication Type: Not specified

Human Diseases: hereditary breast ovarian cancer syndrome, Lynch syndrome, colorectal cancer

Feasibility of structured endurance training and Mediterranean diet in BRCA1 and BRCA2 mutation carriers - an interventional randomized controlled multicenter trial (LIBRE-1).
German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND: Women with pathogenic BRCA germline mutations have an increased risk for breast and ovarian cancer that seems to be modified by life-style factors. Though, randomized trials investigating … the impact of lifestyle interventions on cancer prevention and prognosis in BRCA carriers are still missing. METHODS: We implemented a multicenter, prospective randomized controlled trial in BRCA1/2 patients, comparing a lifestyle intervention group (IG) with a control group (CG) with the primary aim to prove feasibility. Intervention comprised a structured, individualized endurance training alongside nutrition education based on the Mediterranean diet (MD) for 3 months, plus monthly group training and regular telephone contact during the subsequent 9 months. The CG attended one session on healthy nutrition and the benefits of physical activity. Primary endpoints were feasibility, acceptance and satisfaction over 12 months. Furthermore, effects on physical fitness, diet profile, body mass index (BMI), quality of life and perceived stress were investigated. RESULTS: Sixty-eight participants (mean age 41, mean BMI 23.2 kg/m(2)) were enrolled, of whom 55 (81%, 26 IG, 29 CG) completed 12 months. 73% (n = 26) participated in at least 70% of all intervention sessions. Predictors for drop-outs (19%; n = 13) or non-adherence (27%; n = 7) were not found. 73% rated the program highly and 80% would participate again. Severe adverse events did not occur. Positive effects in the IG compared to the CG were observed for secondary endpoints: BMI, MD eating pattern and stress levels. CONCLUSIONS: This lifestyle intervention was feasible, safe and well accepted. Positive results on eating habits, physical fitness and stress levels warrant a larger randomized trial. TRIAL REGISTRATION: The study has been retrospectively registered at ClinicalTrials.gov (reference: NCT02087592 ) on March 12, 2014. The first patient was included on February 24, 2014.

Authors: M. Kiechle, R. Dukatz, M. Yahiaoui-Doktor, A. Berling, M. Basrai, V. Staiger, U. Niederberger, N. Marter, J. Lammert, S. Grill, K. Pfeifer, K. Rhiem, R. K. Schmutzler, M. Laudes, M. Siniatchkin, M. Halle, S. C. Bischoff, C. Engel

Date Published: 10th Nov 2017

Publication Type: Not specified

Human Diseases: hereditary breast ovarian cancer syndrome

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

PURPOSE: To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. PATIENTS AND METHODS: Data from 21 401 … families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and BRCA1/2 mutation status of the index patient. RESULTS: The overall BRCA1/2 mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation frequencies were observed in families with at least two OCs (41.9%, 95% CI 36.1% to 48.0%) and families with at least one breast and one OC (41.6%, 95% CI 40.3% to 43.0%), followed by male BC with at least one female BC or OC (35.8%; 95% CI 32.2% to 39.6%). In families with a single case of early BC (<36 years), mutations were found in 13.7% (95% CI 11.9% to 15.7%). Postmenopausal unilateral or bilateral BC did not increase the probability of mutation detection. Occurrence of premenopausal BC and OC in the same woman led to higher mutation frequencies compared with the occurrence of these two cancers in different individuals (49.0%; 95% CI 41.0% to 57.0% vs 31.5%; 95% CI 28.0% to 35.2%). CONCLUSIONS: Our data provide guidance for healthcare professionals and decision-makers to identify individuals who should undergo genetic testing for hereditary breast and ovarian cancer. Moreover, it supports informed decision-making of counselees on the uptake of genetic testing.

Authors: K. Kast, K. Rhiem, B. Wappenschmidt, E. Hahnen, J. Hauke, B. Bluemcke, V. Zarghooni, N. Herold, N. Ditsch, M. Kiechle, M. Braun, C. Fischer, N. Dikow, S. Schott, N. Rahner, D. Niederacher, T. Fehm, A. Gehrig, C. Mueller-Reible, N. Arnold, N. Maass, G. Borck, N. de Gregorio, C. Scholz, B. Auber, R. Varon-Manteeva, D. Speiser, J. Horvath, N. Lichey, P. Wimberger, S. Stark, U. Faust, B. H. Weber, G. Emons, S. Zachariae, A. Meindl, R. K. Schmutzler, C. Engel

Date Published: 2nd Mar 2016

Publication Type: Not specified

Human Diseases: breast cancer, ovarian cancer

Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer.
German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The Manchester scoring system (MSS) allows the calculation of the probability for the presence of mutations in BRCA1 or BRCA2 genes in families suspected of having hereditary breast and ovarian cancer. … In 9,390 families, we determined the predictive performance of the MSS without (MSS-2004) and with (MSS-2009) consideration of pathology parameters. Moreover, we validated a recalibrated version of the MSS-2009 (MSS-recal). Families were included in the registry of the German Consortium for Hereditary Breast and Ovarian Cancer, using defined clinical criteria. Receiver operating characteristics (ROC) analysis was used to determine the predictive performance. The recalibrated model was developed using logistic regression analysis and tested using an independent random validation sample. The area under the ROC curves regarding a mutation in any of the two BRCA genes was 0.77 (95%CI 0.75-0.79) for MSS-2004, 0.80 (95%CI 0.78-0.82) for MSS-2009, and 0.82 (95%CI 0.80-0.83) for MSS-recal. Sensitivity at the 10% mutation probability cutoff was similar for all three models (MSS-2004 92.2%, MSS-2009 92.2%, and MSS-recal 90.3%), but specificity of MSS-recal (46.0%) was considerably higher than that of MSS-2004 (25.4%) and MSS-2009 (32.3%). In the MSS-recal model, almost all predictors of the original MSS were significantly predictive. However, the score values of some predictors, for example, high grade triple negative breast cancers, differed considerably from the originally proposed score values. The original MSS performed well in our sample of high risk families. The use of pathological parameters increased the predictive performance significantly. Recalibration improved the specificity considerably without losing much sensitivity.

Authors: K. Kast, R. K. Schmutzler, K. Rhiem, M. Kiechle, C. Fischer, D. Niederacher, N. Arnold, T. Grimm, D. Speiser, B. Schlegelberger, D. Varga, J. Horvath, M. Beer, S. Briest, A. Meindl, C. Engel

Date Published: 15th Nov 2014

Publication Type: Not specified

Human Diseases: breast cancer, ovarian cancer

hereditary breast ovarian cancer syndrome
German Consortium for Hereditary Non-Polyposis Colorectal Cancer, 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.

30. GfH-Jahrestagung Weimar 2019
No description specified

Start Date: 6th Mar 2019

End Date: 8th Mar 2019

Event Website: https://www.gfhev.de/de/kongress/index.htm

Country:  Germany

City: Weimar

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