# Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population

## TL;DR

This study explores the link between the APCI1307K mutation and breast cancer in Jordanian Arab patients, finding a higher risk for certain cancers.

## Contribution

The study identifies the APCI1307K mutation's potential role in breast and colorectal cancer risk among Jordanian Arabs.

## Key findings

- 136 out of 3,319 patients had the APCI1307K mutation, with breast cancer being the most common tumor.
- Patients with the mutation had a higher prevalence of colorectal polyps and low-grade dysplasia.
- The mutation may inform cancer screening and prevention strategies in Arab populations.

## Abstract

APCI1307K missense mutation, welldescribed in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigated the potential association between the APC gene (I1307K variant) and the risk of breast cancer among Jordanian Arab patients.

All newly diagnosed patients with solid tumors were offered participation in a universal germline genetic screening study utilizing an investigational 84-gene panel. Patients were categorized based on whether they met or did not meet the criteria outlined in the National Comprehensive Cancer Network (NCCN) for genetic testing.

Among the screened cancer patients (n = 3,319), 136 (4.1%) had APCI1307K. Breast cancer was the most common primary tumor (n = 56, 41.2%). Among them, 41 (73.2%) had a screening colonoscopy, and 12 (29.3%) were found to have colorectal polyps, while 41.7% (5/12) had low-grade dysplasia. Of the 34 (25.0%) patients diagnosed with colorectal cancer, 23 (67.6%) exhibited tumors presenting as polyps, had concomitant polyps, or displayed background abnormalities with a polypoid nature.

These findings suggest that Arab individuals with the APCI1307K missense mutation are at higher risk of breast and familial colorectal cancers. The APCI1307K missense variant holds promise in informing screening and cancer prevention strategies. However, additional confirmation by larger studies is needed.