Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience

Yassaee, Vahid Reza; Ravesh, Zeinab; Soltani, Ziba; Hashemi‐Gorji, Feyzollah; Poorhosseini, Seyed Mohammad; Anbiaee, Robab; Joulaee, Azadeh

doi:10.7314/apjcp.2016.17.s3.149

Cited by 7 publications

(1 citation statement)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…According to the latest systematic review done in 2015, at least 15 valid investigations on BRCA1/2 gene mutations in Iranian population exist. Of those more than half of them only examined the frequency of three Ashkenazi Jewish founder mutations, 185delAG, 5382insC, and 6174delT, and the rest only focused on other specific gene mutation or exons in BRCA1/2 (12)(13)(14)(15)(16). Only a handful of studies have examined all the coding sequences of BRCA1/2.…”

Section: Introductionmentioning

confidence: 99%

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Ebrahimi

Sellars

Shirkoohi

et al. 2019

Cancer Prevention Research

View full text Add to dashboard Cite

Because the contribution of genetic factors to the burden of breast cancer is not well investigated in Iran, we aimed to examine the prevalence of mutations in breast cancer susceptibility genes, BRCA1/2 and PALB2, and to investigate the predictive potential of hereditary breast cancer risk criteria for genetic testing in Iranian population. Next-generation sequencing was conducted on a population consisting of 299 and 125 patients with breast cancer, with and without hereditary cancer risk criteria for genetic testing, respectively. The pathogenic mutation frequency rate was 10.7% in patients with hereditary cancer criteria versus 1.6% in no criteria group (P ¼ 0.0017). None of the 107 tested patients with only young age at onset (<40) criterion had a pathogenic mutation. Patients who had only a single heritable risk criterion [OR, 6.15; 95% confidence interval (CI), 1.26-58.59; P ¼ 0.009] and patients with multiple heritable risk criteria (OR, 22.5; 95% CI,; P < 0.0001) had higher probabilities of carrying a mutation compared with no criteria group. Our results showed that young age at onset alone is not an indicator of hereditary breast cancer at least in the Iranian population. This is while women with multiple hereditary breast cancer risk criteria were enriched for BRCA1/2 mutations. Given such high risk of identification of a disease-causing mutation, multiple hereditary criteria should be regarded as a strong predictor for a hereditary breast cancer syndrome. These findings are important concerning the optimization of genetic counseling and furthermore establishing criteria for BRCA1/2 testing of the Iranian population.

show abstract

Section: Introductionmentioning

confidence: 99%