التفاصيل البيبلوغرافية
| العنوان: |
Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers. |
| المؤلفون: |
Forkosh, Esther, Bergel, Michael, Hatchell, Kathryn E., Nielsen, Sarah M., Heald, Brandie, Benson, Ariel A., Friedman, Eitan, Esplin, Edward D., Katz, Lior H. |
| المصدر: |
Cancers; Dec2022, Vol. 14 Issue 23, p5875, 9p |
| مصطلحات موضوعية: |
STOMACH tumors, PANCREATIC tumors, BLADDER tumors, GENETIC mutation, CONFIDENCE intervals, OVARIAN tumors, MELANOMA, GENETIC testing, LUNG tumors, COLORECTAL cancer, CANCER patients, GENETIC markers, CHI-squared test, DESCRIPTIVE statistics, HEMATOLOGIC malignancies, KIDNEY tumors, TUMOR markers, DATA analysis software, ODDS ratio, BREAST tumors, PROSTATE tumors, DISEASE risk factors |
| مستخلص: |
Simple Summary: APC I1307K has a two-fold increased risk for colorectal cancer in Ashkenazi Jews (AJ) compared to non-Jewish populations. The study aims to demonstrate the prevalence of the APC I1307K variant in the largest cohort of AJ and non-AJ white (NAW) descents described so far. In addition, we assessed the prevalence of CRC and extracolonic malignancies among I1307K carriers. We found that NAW I1307K carriers had a higher risk of any cancer, such as CRC, melanoma, breast, and prostate cancer. Among AJ, the variant increased the risk for CRC and renal cancer, and AJ men had a higher risk for any cancer and melanoma. We believe these findings are significant and may suggest the necessity for cancer screening in this population. Purpose: APC I1307K has a higher prevalence among Ashkenazi Jews (AJ), and a two-fold increased risk for colorectal cancer (CRC) compared to non-Jewish populations. We assessed CRC and extracolonic malignancies among I1307K carriers from AJ and non-AJ whites (NAW). Methods: We compared the rate of I1307K in cancer patients who underwent germline genetic testing via a multi-gene panel with healthy subjects retrieved from the gnomAD database. Cases undergoing testing were not selected and testing was undertaken through a commercial laboratory. Results: Overall, 586/7624 (7.6%) AJ with cancer carried I1307K compared to 342/4918 (6.9%) in the AJ control group (p = NS). In the NAW, 318/141,673 (0.2%) cancer patients and 73/58,918 (0.1%) controls carried the variant [OR = 1.8, (95% CI 1.41–2.35), p < 0.001]. I1307K in NAW was associated with an increased risk of CRC [OR = 1.95, (95% CI 1.39–2.73), p < 0.01], melanoma [OR = 2.54, (95% CI 1.57–3.98)], breast [females, OR = 1.73, (95% CI 1.18–2.65), p < 0.01], and prostate cancer [males, OR = 2.42, (95% CI 1.45–3.94), p < 0.01]. Among AJ, the variant increased the risk for CRC [OR = 1.67, (95% CI 1.36–2.05), p < 0.001] and renal cancer [OR = 1.64, (95% CI 1.04–2.47)]. AJ men had a higher risk for any cancer [OR = 1.32, (95% CI 1.05–1.66), p < 0.05] and melanoma [OR = 2.04, (95% CI 1.24–3.22); p < 0.05]. Conclusions: This is the most extensive study to date conducted on I1307K carriers, although it is amenable to selection bias. NAW carrying I1307K had a higher risk of any cancer and several specific cancer types, whereas AJ carrying the variant had a risk for only a few select cancers. Our data add to the research base on I1307 carriers concerning future risk management. [ABSTRACT FROM AUTHOR] |
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