Module: derived

Module Contents

CENTER_NO

number (2,0)

Required:true

Center Identification Number.

Allowable Values
11	Sinai Health Systems (formerly Cancer Care Ontario)
12	University of Southern California Consortium (USCC)
13	University of Melbourne
14	University of Hawaii Cancer Center
15	Mayo Clinic
16	Fred Hutch, Seattle
17	University of California at San Francisco (UCSF) (formerly CPIC, originally Northern California (NCCC))

2	PERSON_ID	string (12)	Required:true
	Number that uniquely identifies an individual.

C_DEL_MMR

number (1,0)

Required:true

Presence of deleterious mutation in one or more MMR gene (MLH1, MSH2, MSH6, PMS2, EPCAM) by sequencing (genomic and /or MLPA)

Allowable Values
-8	No data transmitted from centers
-9	Failed or equivocal MLPA result or failed sequencing result
1	One or more MMR gene (MLH1, MSH2, MSH6, PMS2, EPCAM) has been tested for a germline mutation (by any method) and no deleterious/pathogenic mutation was found
2	One or more MMR gene (MLH1, MSH2, MSH6, PMS2, EPCAM) has been tested for a germline mutation (by any method) and one or more deleterious/pathogenic mutation was found (positive for Lynch syndrome)

C_MLH1

number (1,0)

Required:true

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)

C_MSH2

number (1,0)

Required:true

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)

C_MSH6

number (1,0)

Required:true

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)

C_PMS2

number (1,0)

Required:true

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)

C_EPCAM

number (1,0)

Required:true

Presence of deleterious mutation or unclassified variant in EPCAM gene

Allowable Values
-8	No data transmitted from centers
-9	Failed or equivocal MLPA result
-1	MLPA test has been run, and no deleterious variant or unclassified variant detected
2	One or more deleterious variants detected (If 1 should be homozygous)
3	One or more unclassified variants detected
4	One or more deleterious AND one or more unclassifed variants detected

C_MUTYH

number (1,0)

Required:true

Presence of deleterious mutation or unclassified variant in MUTYH gene

Allowable Values
-8	No data transmitted from centers
-9	Failed or equivocal sequencing result
-1	Genomic test has been run, and no deleterious variant or unclassified variant detected
2	One or more deleterious variants detected (If 1 should be homozygous)
3	One or more unclassified variants detected
4	One or more deleterious AND one or more unclassifed variants detected