No abstract

African Americans have a disproportionate burden of aggressive young-onset breast cancer. Genomic testing for inherited predisposition to breast cancer is increasingly common in clinical practice, but comprehensive mutation profiles remain unknown for most minority populations. We evaluated 289 patients who self-identified as African American with primary invasive breast cancer and with personal or family cancer history or tumor characteristics associated with high genetic risk for all classes of germline mutations in known breast cancer susceptibility genes using a validated targeted capture and multiplex sequencing approach. Sixty-eight damaging germline mutations were identified in 65 (22 %, 95 % CI 18–28 %) of the 289 subjects. Proportions of patients with unequivocally damaging mutations in a breast cancer gene were 26 % (47/180; 95 % confident interval [CI] 20–33 %) of those with breast cancer diagnosis before age 45; 25 % (26/103; 95 % CI 17–35 %) of those with triple-negative breast cancer (TNBC); 29 % (45/156; 95 % CI 22–37 %) of those with a first or second degree relative with breast cancer before age 60 or with ovarian cancer; and 57 % (4/7; 95 % CI 18–90 %) of those with both breast and ovarian cancer. Of patients with mutations, 80 % (52/65) carried mutations in BRCA1 and BRCA2 genes and 20 % (13/65) carried mutations in PALB2, CHEK2, BARD1, ATM, PTEN, or TP53. The mutational allelic spectrum was highly heterogeneous, with 57 different mutations in 65 patients. Of patients meeting selection criteria other than family history (i.e., with young age at diagnosis or TNBC), 48 % (64/133) had very limited information about the history of cancer in previous generations of their families. Mutations in BRCA1 and BRCA2 or another breast cancer gene occur in one in four African American breast cancer patients with early onset disease, family history of breast or ovarian cancer, or TNBC. Each of these criteria defines patients who would benefit from genomic testing and novel therapies targeting DNA repair pathways.

1 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2018;48:1617-1625.

Background: The tumor-stroma ratio (TSR) has been identified as a new and practicable prognostic histological characteristic of solid tumors. The aim of this study was to evaluate the prognostic value of the TSR in nasopharyngeal cancer (NPC). Patients and Methods: A total of 93 patients who presented with NPC from 2004 to 2007 were studied. Radiotherapy with or without chemotherapy was administered according to their Union for International Cancer Control (UICC) stages. The TSR was assessed visually on hematoxylin and eosin-stained tissue sections of biopsy specimens by 2 independent observers. Results: The 5-year overall survival (OS) and disease-free survival (DFS) rates were 66.67% and 54.91%, respectively, in the stroma-poor group and 40.48% and 33.33%, respectively, in the stroma-rich group. Both the 5-year OS and DFS rates in the stroma-poor group were significantly better than those in the stroma-rich group (p < 0.05). In a multivariate analysis, the TSR was identified as a highly significant prognostic factor for the 5-year OS (hazard ratio (HR) 1.999; p = 0.030) and the 5-year DFS (HR 1.925; p = 0.042). Conclusion: Stroma-rich tumors were associated with poor prognosis and an increased risk of relapse, which may serve as a new prognostic histological characteristic in NPC.