The PREMM5 has been developed as a pretest to decide whether patients suspected of having Lynch syndrome should be tested for germline mismatch repair gene mutations. In contrast to "PREMM1,2,6" it can be used to predict mutation probabilities in unaffected index patients.
"PREMM5" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2/EPCAM, MSH6 and PMS2 (for single genes and overall) based on the personal and familial cancer history
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Creators: Christoph Engel, Silke Zachariae, Kastrinos et al.
Contributor: Silke Zachariae
Model type: Not specified
Model format: Not specified
Environment: Not specified
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Modelling analyses: No Modelling analyses
The PREMM1,2,6 has been developed as a pretest to decide whether patients suspected of having Lynch syndrome should be tested for germline mismatch repair gene mutations.
"PREMM1,2,6" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (for single genes and overall) based on the personal and familial cancer history of the proband (colorectal, endometrial, and other Lynch syndrome related cancers).
Creators: Christoph Engel, Silke Zachariae, Kastrinos et al.
Contributor: Silke Zachariae
Model type: Not specified
Model format: Not specified
Environment: Not specified
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Modelling analyses: No Modelling analyses
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.
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Creators: Silke Zachariae, Christoph Engel, Claus, E.B. et al. (1991 and 1994)
Contributor: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Not specified
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Modelling analyses: No Modelling analyses
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
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Creators: Silke Zachariae, Christoph Engel, Evans, D.G. et al. (2009)
Contributor: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Not specified
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Modelling analyses: No Modelling analyses
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
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Creators: Silke Zachariae, Christoph Engel
Contributor: Silke Zachariae
Model type: Not specified
Model format: R package
Environment: Not specified
Human Disease: hereditary breast ovarian cancer syndrome
Investigations: No Investigations
Studies: No Studies
Modelling analyses: No Modelling analyses