Derived Genomic

Module: derived

Module Contents

  1. d_Genomic
    1.PERSON_ID
    2.C_MLH1
    3.C_MSH2
    4.C_MSH6
    5.C_PMS2
    6.C_MUTYH
    7.C_EPCAM

1PERSON_IDstring (12)Required:FALSE
Identifier for person that is globally unique within the C-CFR central database.
FK. Consists of concatenation of CENTER_NO (2 digit; digits 1-2) + (10 digit local unique individual id; digits 3-12). The 10 digit individual number component should be right justified, zero filled. Ex: Local unique individual id 98765 from New York Breast Center should be: 020000098765 or 20000098765. Ex: Individual Id 98765 from Australia Colon Center should be: 130000098765.

2C_MLH1number (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in MLH1 gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)


3C_MSH2number (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in MSH2 gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)


4C_MSH6number (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in MSH6 gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)


5C_PMS2number (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in PMS2 gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)


6C_MUTYHnumber (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in MUTYH gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)


7C_EPCAMnumber (1,0)Required:FALSE
Presence of deleterious mutation or unclassified variant in EPCAM gene
Allowable Values
-8 No data transmitted from centers
-9 Failed or equivocal MLPA result or failed sequencing result
-1 One of the tests (Genomic or MLPA) has been run, and no deleterious variant or unclassified variant detected
1 Both of the tests (Genomics and MLPA) have been run and no deleterious variant or unclassified variant detected
2 One or more deleterious variants detected (Genomic or MLPA) (If 1 should be homozygous)
3 One or more unclassified variants detected (Genomic or MLPA)
4 One or more deleterious AND one or more unclassifed variants detected (Genomic or MLPA)