Breast and Colon Cancer Family Registries

About Colon CFR: Colon-CFR Summary Data

Table 1: Summary Data and Biospecimen Collection by Ascertainment Source and Participant Type for Phase I and Phase II
	Population-based Ascertainment		Clinic-based Ascertainment		Total
	Phase-I	Phase-II	Phase-I	Phase-II	Phase-I & II
CRC-Affected Proband
with epidemiology data	5,111	2,141	441	448	8,141
with blood or mouthwash sample	4,661	1,852	450	415	7,378
with tumor block	4,391	1,131	406	383	6,311
Unaffected Proband
with epidemiology data	N/A	N/A	145	83	228
with blood or mouthwash sample	N/A	N/A	142	117	259
CRC-Affected Relative
with epidemiology data	533	132	516	143	1,324
with blood or mouthwash sample	425	126	506	132	1,189
with tumor block	433	100	596	149	1,278
Unaffected Relative
with epidemiology data	12,332	2,923	3,273	1,288	19,816
with blood or mouthwash sample	5,913	2,539	3,053	1,233	12,738
Population-based Control
with epidemiology data	3,754	354	0	0	4,108
with blood or mouthwash sample	2,431	301	0	0	2,732
Spouse Control
with epidemiology data	720	68	195	0	983
with blood or mouthwash sample	688	70	200	0	958

Represents recruitment and data collection through December 31, 2006

Table 2: Summary of Biospecimens
Dispatched to Date by Type
Common Sample Types	Total # samples dispatched
Genomic DNA	96,117
Tissue sections on slides	21,699
Slow-frozen lymphocyte cells	20,898
PET Tissue DNA	16,729
Plasma	2,128
DNA from Buccal Cells	255
RNA	58
LCL (lymphoblast cell line)	41
Fresh frozen tissue DNA	2
TOTAL	157,927

Table 3: General Characteristics of Phase-I Colon CFR Probands
PROBANDS	TOTAL
Sex
Male	3,273
Female	3,323
Age at diagnosis
<30 years	66
30-39 years	366
40-49 years	1,134
50-59 years	1,888
60-69 years	2,177
≥70 years	965
Primary site
Colon (ICD-O: 18.0, 18.2-18.7)	2,930
Rectum (ICD-O: 19.9, 20.9, 21.8)	1,858
Colorectal (ICD-O: 18.8, 18.9, 26.0)	381
Appendix (ICD-O: 18.1)	37
Multiple sites (synchronous primaries)	156
Proband’s FDR history of CRC
0 affected FDRs	4,757
1 affected FDR	1,451
≥2 affected FDRs	388
Race
American Indian/Alaska Native	58
Asian	280
Native Hawaiian or Other Pac.Islander	27
Black or African American	140
White	5,806
More Than One Race	102
Unknown or Not Reported	183

Only incident cases recruited during the funding period (1998-2002) are reported. Additional cases (either that were not selected for full enrollment based on their family history or were prevalent cases are excluded from this report).

Table 4: Active Follow-up on Phase I Enrollees
Population-based enrollees	Total
Probands eligible for active follow-up	4,088
Probands with active follow-up completed to date	3,248
Relatives with active follow-up completed	9,140

Clinic-based cases enrollees	Total
Probands eligible for active follow-up	578
Probands with active follow-up completed to date	502
Relatives with active follow-up completed	2,821

Table 6: Results of Germline Mutation Testing in DNA MMR Genes
December 2006
	MLH1	MSH2	MSH6
# Eligible	1,747	1,747	334
# Tested	1,747	1,747	334
# Cases with deleterious mutations	77	75	21
# Polymorphisms	2,021	1,569	727
# Cases with unclassified sequence variants	119	96	15

Table 7: Results of Methylation Testing of Tumor MLH1
	MLH1 Methylation
# Eligible	2,469
# Tested	2,469
# Cases with methylated MLH1	311 with high level methylation; 133 with low level methylation

Population-based affected probands and clinic-based probands are combined.

Table 8: *MLH1, MSH2, & MSH6* MLPA Testing
(Multiple Ligation Probe Assay)
December 2006
	MLH1	MSH2	MSH6
# Eligible	1747	1747	334
# Tested	1747	1747	332
# With deleterious deletions	7	39	2

Population-based affected probands and clinic-based probands are combined.

Table 9: Methylation Testing of Tumor MLH1
December 2006
	MLH1 Methylation
# Eligible	2,469
# Tested	2,469
# Cases with methylated MLH1	311 with high level methylation; 133 with low level methylation

Population-based affected probands and clinic-based probands are combined.

Table 11: Characteristics of Colon CFR Probands from Phase II
	Total
Sex
Male	1,464
Female	1,427
Age at diagnosis
<30 years	89
30-39 years	420
40-49 years	1,631
50-59 years	278
60-69 years	267
≥70 years	206
Primary site
Colon (ICD-O: 18.0, 18.2-18.7)	1,389
Rectum (ICD-O: 19.9, 20.9, 21.8)	869
Colorectal (ICD-O: 18.8, 18.9, 26.0)	584
Appendix (ICD-O: 18.1)	27
Multiple sites (synchronous primaries)	22
Proband’s FDR history of CRC
0 affected FDRs	2,360
1 affected FDR	432
≥2 affected FDRs	99
Race
American Indian/Alaska Native	34
Asian	316
Native Hawaiian/Other Pac. Islander	20
Black or African American	357
White	1,792
More Than One Race	236
Unknown or Not Reported	150

Represents recruitment and data collection through December 31, 2006

Table 12: Phase-I Tumor Phenotyping for DNA Mismatch Repair Deficiency: Microsatellite Instability Results
	Total
Total MSI records	3,986
Tumor MSI
MSI-High	668
MSI-Low	458
MSS	2,860

MSI - Microsatellite Instability MSI-High (30-100% makers unstable; MSI-Low (1-29% markers unstable); MSI-Low (1-29% markers unstable) MSI results shown only on those tumors with >4 markers successfully amplified. *In addition, 30 Phase II Clinic-based tumors have been tested for MSI.

Table 13: Tumor Phenotyping for DNA Mismatch Repair Deficiency:
Immunohistochemistry Expression of DNA Mismatch Repair Gene Product
	Population-Based		Clinic-Based		Total
	Phase I	Phase II	Phase I	Phase II	Total
Total IHC records	3,362	394	320	328	4,404
Tumor Immunohistochemistry Status
MLH1 or MLH1/PMS2 loss	358	36	48	56	498
MSH2 or MSH2/MSH6 loss	82	17	45	26	170
MSH6-only loss	35	19	17	18	89
PMS2-only loss	34	24	8	18	84
Other pattern of IHC loss	6	1	0	0	7
No loss	2,847	297	202	210	3,556

Table 14: Phase II Fresh Frozen Tissue Ascertainment
	U of HI	Mayo	FHCRC	USC	Austr	CCO	Total
Number of consents obtained	4	39	N/A	58	N/A	171	272
Number of tissues obtained	4	83	N/A	58	N/A	171	272
Total goal for Phase II recruitment	30	60	N/A	120	N/A	60	270

Reflects data collected through December 2006.

Last modified: 17 Apr 2007	Search \| Contact Us \| Accessibility \| Privacy Policy