Appendix Table 1.
Number of Counselees, by Genotyping Method for Each Gene and Center *
| Genotyping Method |
Duke Univ. |
Penn | George- town Univ. |
JHU | FHCRC | BCM | MDACC | UTSW | HCI | UCI | COH |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 | |||||||||||
| SSCP | 1 | 61 | 170 | 0 | 583 | 0 | 0 | 1 | 0 | 9 | 0 |
| Seq | 72 | 127 | 28 | 68 | 0 | 0 | 105 | 105 | 61 | 0 | 33 |
| ASO | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 688 | 0 |
| Targeted mut screening | 37 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Seq for 185delAG and 5382insC | 41 | 91 | 4 | 33 | 0 | 0 | 11 | 15 | 0 | 0 | 25 |
| Seq for 185delAG only | 0 | 0 | 0 | 0 | 0 | 282 | 0 | 0 | 0 | 106 | 0 |
| CSGE | 3 | 310 | 41 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| SSCP + ASO | 0 | 0 | 18 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Targeted mut screening + Seq | 60 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Targeted mut screening + CSGE | 23 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Other† | 4 | 42 | 14 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 19 |
| None‡ | 1 | 45 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| BRCA2 | |||||||||||
| SSCP | 0 | 0 | 171 | 0 | 384 | 0 | 0 | 0 | 0 | 0 | 0 |
| Seq | 64 | 242 | 28 | 66 | 0 | 0 | 104 | 101 | 61 | 0 | 32 |
| CSGE | 5 | 199 | 40 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| ASO | 55 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Seq for 6174delT | 47 | 0 | 6 | 33 | 0 | 0 | 11 | 14 | 0 | 688 | 25 |
| SSCP + ASO | 0 | 0 | 17 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Seq + ASO | 24 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| ASO + Seq | 36 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Other† | 0 | 76 | 13 | 1 | 0 | 0 | 0 | 0 | 0 | 115 | 19 |
| None‡ | 11 | 159 | 0 | 3 | 199 | 282 | 2 | 6 | 0 | 0 | 1 |
ASO = allele-specific oligonucleotide hybridization assay (33, 61); BCM = Baylor College of Medicine; COH = City of Hope; CSGE = confirmation-sensitive gel electrophoresis (33); FHCRC = Fred Hutchinson Cancer Research Center; HCI = Huntsman Cancer Institute; JHU = Johns Hopkins University; MDACC = M.D. Anderson Cancer Center; Penn = University of Pennsylvania; Seq = full sequencing of the coding regions of the gene, as implemented by Myriad Genetics Laboratories at the time of testing (18, 61, 62); Seq for 185delAG = sequencing for Ashkenazi founder mutation 185delAG in BRCA1 (1, 63); Seq for 185delAG and 5382insC = sequencing for Ashkenazi founder mutations 185delAG and 5382insC in BRCA1 (1, 63); Seq for 6174delT = sequencing for Ashkenazi founder mutation 6174delT in BRCA1 (1, 63); SSCP = single-strand conformation polymorphism (62); targeted mut screening = sequencing for a panel of 8 known deleterious mutation in BRCA1 and 4 deleterious mutations in BRCA2 (64); UCI = University of California, Irvine (Orange County); UTSW = University of Texas Southwestern.
”Other” includes all genotyping methods that were used in a sample that was too small to be worth reporting in detail, as well as some cases whose genotyping method was missing.
“None” indicates that individuals were tested for 1 gene and not the other, contributing to the main analysis only if they test positive. This occurs either by design or because genes are tested sequentially and the second gene is not tested after a mutation is found in the first.