Table 3

Published studies on APC I1307K and publicly available data in non-Jewish CRC patients and controls

StudyNon-Jewish individualsDeclared 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.