Models

Depending on the calculated mutation probability genetic counsellors can decide whether patients should undergo further analysis of microsatellite instability and immunohistochemistry. The model is recommended for patients with an age at colorectal cancer diagnosis of 55 or younger.

"MMRpredict" is a risk prediction model for patients with colorectal cancer (Barnetson et al. 2006). It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (overall probability) ...

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).

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 ...

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 ...

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 ...

The main goal is to provide a principled analysis workflow addressing specific issues of mass-spectrometry metabolite measurements in the context of testing in multiple studies with a high number of hypotheses

Shiny-Application of an analysis pipeline for preprocessing, association and covariate selection of metabolite data with clinical and lifestyle factors in one or more seperate studies. Preprocessing steps include transformation, outlier filtering and batch-adjustment. Analyses include uni- ...