He Evidencebased Network for the Interpretation of Germline Mutation Alleles (ENIGMA, http://enigmaconsortium.org/) (Colombo et al., 2014; Thomassen et al., 2012; Thompson et al., 2014), the detected variants within the BRCA1/2 gene were classified into the following five categories: Yohimbic acid site pathogenic (category 5, likelihood of illness 0.99), possibly pathogenic (category four, likelihood of disease in between 0.95 and 0.99), unknown pathogenicity (category 3, likelihood of illness between 0.05 and 0.949), possibly benign (category two, likelihood of illness among 0.01 and 0.049), and benign (category 1, likelihood of disease 0.01).2.Statistical evaluation was performed working with Statistical Item and Service Solutions 24.0 statistical software (IBM Corp., Armonk, NY). The distribution of BRCA1/2 variants in patients with triplenegative and nontriplenegative breast cancer were compared utilizing the two test. The associations of the BRCA1/2 mutations with clinical attributes on the patients were evaluated utilizing the 2 test or Fisher’s exact test. Differences with P values of 0.05 had been considered statistically considerable.|Statistical evaluation|RESULTS3.1 | Demographic and clinical characteristics of the patientsAmong the 216 index individuals, 47 patients had a family history of breast cancer, epithelial ovarian cancer, pancreatic cancer, and/or prostate cancer. The median age at diagnosis was 42 years (range: 217 years). Around 175 patients had an age at diagnosis 45 years (43 patients 35 years, 52 sufferers 35 years and 40 years, and 80 sufferers 40 years and 45 years). Seven individuals had far more than two key tumors, three of whom had bilateral breast cancer. Two breast cancer sufferers had been male. Determined by immunohistochemistry, 216 patients had been divided into three groups, including 57 patients with triplenegative breast cancer and 159 individuals with nontriplenegative4 of|WANG et Al.breast cancer. There had been 200 and 16 sufferers from Jilin and Inner Mongolia, respectively, such as 202 Han sufferers, nine Mongolian sufferers, two Korean sufferers, two Manchu sufferers, and 1 Hui patient.ovarian cancer, pancreatic cancer and prostate cancer; number of principal lesions; tumor size; and lymph node metastasis (all p 0.05; Table four). The distribution of your identified BRCA1/2 variants in family members of your index individuals is shown in Table five.3.two | Prevalence of BRCA1/2 variants in sufferers with Butein References highrisk breast cancerA total of 17 BRCA1/2 mutations were detected in 18 of 216 (eight.three ) index individuals with highrisk breast cancer. All individuals carrying the BRCA1/2 mutations had been Han Chinese. Amongst these 17 mutations, eight mutations were novel and have not been reported in the BIC and/or ClinVar databases, like five BRCA1 mutations (Table 1) and three BRCA2 mutations (Table 2). Eleven BRCA1 pathogenic mutations had been detected in 11 (5.1 ) in the 216 sufferers. Six mutations had been identified mutations which have been reported within the BIC and/ or ClinVar databases, such as c.2138CG, c.2751delC, c.2572CT, c.3916_3917delTT, c.3841CT, and c.51942AG. The other 5 mutations haven’t been reported within the BIC and/or ClinVar databases, which integrated c.1934delC, c.123_124delCAinsAT, c.5093_5096delCTAA, c.53962AG, and c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG (Table 1). Six BRCA2 pathogenic variants have been detected in seven (three.two ) from the 216 patients. 3 variants have been previously reported, including c.5959CT, c.8364GA, and c.464_468delGAGAT. Two individuals carried the c.5959CT mutation. T.
