Molecular Spectra and Frequency Patterns of Somatic Mutations in Arab Women with Breast Cancer

Abstract

Background. The role of somatic mutations in breast cancer prognosis and management continues to be recognized. However, data on the molecular profiles of Arab women are limited. Materials and Methods. This was a cross-sectional study based on medical chart review of all Arab women diagnosed with breast cancer at a single institution between 2010 and 2018 who underwent next-generation sequencing with Ampliseq 46-Gene or 50-Gene. Results. A total of 78 Arab women were identified, with a median age at diagnosis of 52.3 years (range: 37-82 years; 38.5% ≤50 years). The majority of patients had stage III or IV disease (74.4%).

Breast Cancer in the United Arab Emirates

“…BRCA2 was the most common gene identified. 9 In another study evaluating somatic pathogenic BRCA1/2 mutations in 105 patients with ovarian cancer, the rate of any positivity was 17% (2.9% positivity for both mutations). Five patients with BRCA1/2 somatic pathogenic mutations had germline pathogenic mutations as well.…”

“…BC in the Arab population has different clinicopathologic and immune-histochemical features than it does in the Western population, including early onset, higher grade, higher HER2 amplification rate, and a lower rate of luminal subtype. 8 , 9 There are limited data about the clinicopathologic features of BC in the UAE in specific. A recent study evaluated 94 women with BC from the Northern Emirates of the UAE.…”

“… 26 This is crucial in view of the younger age of the population of BC in the UAE and common comorbidities such as diabetes and cardiovascular disease. 9 …”

Breast Cancer in the Arabian Gulf Countries

“…Additionally, data from MD Anderson Cancer Center on 78 Arab women diagnosed between 2010 and 2018 revealed an ER positivity of 69.2% and a PR positivity of 65.4%. HER2+ status was reported in 19.2% of the patients, while 26.9% had TN disease [39]. Data from the KCCC reported TN disease in 363 patients out of 2980 (12.2%) between 1999 and 2009 [40,41].…”

“…A cross-sectional study that looked at 78 Arab women diagnosed with BC at MD Anderson Cancer Center between January 2010 and December 2018 and who underwent standardized hotspot mutation testing using 46-or 50-gene multiplexes, identified five somatic mutations that were most expressed in these patients: TP53 (23.1%) and PIK3CA (15.4%), followed by PTEN, APC, and KIT (7.7% each). The germline BRCA1 mutation was reported in 8/27 (29.6%) patients while no germline BRCA2 mutations were identified [39]. One study from Oman, using microarray gene expression profiling to analyze gene expression in luminal A, luminal B, and TN breast tumors compared with normal or benign breast tissue, identified more than 1000 differentially expressed genes potentially associated with signaling pathways playing a key role in the malignant transformation of benign tumors [50].…”