Table 3.
Published studies on APC I1307K and publicly available data in non-Jewish CRC patients and controls
| Study | Non-Jewish individuals | Declared origin | |
| CRC cases I1307K/total (%) |
Controls I1307K/total (%) |
||
| European/non-AJ white | |||
| Lothe et al (1998)62 | 1/210 (0.48) | – | Norwegian (I1307K heterozygote is of Jewish origin, probably AJ) |
| Evertsson et al (2001)63 | 0/194 (0) | – | Swedish |
| Kapitanovic et al (2004)64 | 0/73 (0) | – | Croatian |
| Zhou et al (2004)65 | 1/91 (1.1) | – | Swedish |
| Forkosh et al (2022)*10 | 64/26 563 (0.24) | – | Non-AJ whites (USA commercial laboratory) |
| Prior et al (1999)9 | 0/240 (0) | – | Italian, Finnish, Hawaiian-Japanese |
| MCC-Spain† | 7/4072 (0.17) | 4/2739 (0.15) | Spanish |
| CSVS non-cancer‡ | – | 9/2024 (0.44) | Spanish |
| SweGen§ | – | 0/1000 (0) | Swedish |
| gnomAD non-cancer, NFE¶ | – | 111/91 301 (0.12) | gnomAD V.2.1.1 (73/58 918) and V.3.1.2 (38/32 383) |
| Other geographic origins | |||
| Chen-Shtoyerman et al (2003)66 | 8/24 (33.3) | – | Israeli Arabs |
| Rennert et al (2005)42 | 2/79 (2.5) | – | 65 Israeli Arabs and 14 non-Jewish non-Arabs (I1307K heterozygotes are Arabs) |
| Bougatef et al (2009)67 | 1/48 (2.08) | 0/63 (0) | Tunisian (no ancestry/ethnicity description) |
| Abdel-Malak et al (2016)51 | 22/120 (18.3) | 8/100 (8) | Egyptian (no ancestry/ethnicity description) |
| Akcay et al (2021)68 | 0/185 (0.0) | 3/490 (0.6) | Turkish (no ancestry/ethnicity description) |
| Dundar et al (2007)69 | 30/56 (54) | – | Turkish (no ancestry/ethnicity description) |
| Guo et al (2004)70 | 0/178 (0) | – | 147 Chinese, 20 Malay and 11 Indian |
*Controls used by Forkosh et al were non-AJ whites obtained from the gnomAD dataset (gnomAD V.2.1.1 non-cancer NFE) and thus not geographically matched with the cases (USA commercial laboratory). These would largely overlap with the gnomAD non-Finnish European controls included in the table and, therefore, have not been included as matched controls for this study.
†Exome array data from MCC-Spain which includes 1348 CRC patients and 2744 controls (https://shiny.snpstats.net/exome/) (access date: December 2022).
‡Collaborative Spanish Variant Server: http://csvs.babelomics.org/ (access date: December 2022).
§SweGen project includes variant information from 1000 genomes of Swedish individuals. https://swefreq.nbis.se/dataset/SweGen/browser (access date: December 2022).
¶gnomAD V.2.1.1 non-cancer, non-Finnish Europeans: 73/58 918; gnomAD V.3.1.2 non-cancer, non-Finnish Europeans: 38/32 383.
AJ, Ashkenazi Jewish; CRC, colorectal cancer; CSVS, Collaborative Spanish Variant Server.