scholarly journals Risk of Late-Onset Breast Cancer in Genetically Predisposed Women

2021 ◽  
pp. JCO.21.00531
Author(s):  
Nicholas J. Boddicker ◽  
Chunling Hu ◽  
Jeffrey N. Weitzel ◽  
Peter Kraft ◽  
Katherine L. Nathanson ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
White Women ◽  
Triple Negative ◽  
Late Onset ◽  
Population Based ◽  
Brca1 And Brca2 ◽  
Gene Frequencies ◽  
Predisposition Genes ◽  
Brca1 Brca2

PURPOSE The prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women in the general population over age 65 years is not well-defined. However, testing guidelines suggest that women diagnosed with breast cancer over age 65 years might have < 2.5% likelihood of a PV in a high-penetrance gene. This study aimed to establish the frequency of PVs and remaining risks of breast cancer for each gene in women over age 65 years. METHODS A total of 26,707 women over age 65 years from population-based studies (51.5% with breast cancer and 48.5% unaffected) were tested for PVs in germline predisposition gene. Frequencies of PVs and associations between PVs in each gene and breast cancer were assessed, and remaining lifetime breast cancer risks were estimated for non-Hispanic White women with PVs. RESULTS The frequency of PVs in predisposition genes was 3.18% for women with breast cancer and 1.48% for unaffected women over age 65 years. PVs in BRCA1, BRCA2, and PALB2 were found in 3.42% of women diagnosed with estrogen receptor (ER)–negative, 1.0% with ER-positive, and 3.01% with triple-negative breast cancer. Frequencies of PVs were lower among women with no first-degree relatives with breast cancer. PVs in CHEK2, PALB2, BRCA2, and BRCA1 were associated with increased risks (odds ratio = 2.9-4.0) of breast cancer. Remaining lifetime risks of breast cancer were ≥ 15% for those with PVs in BRCA1, BRCA2, and PALB2. CONCLUSION This study suggests that all women diagnosed with triple-negative breast cancer or ER-negative breast cancer should receive genetic testing and that women over age 65 years with BRCA1 and BRCA2 PVs and perhaps with PALB2 and CHEK2 PVs should be considered for magnetic resonance imaging screening.

scholarly journals A population‐based comparison of treatment patterns, resource utilization, and costs by cancer stage for Ontario patients with triple‐negative breast cancer

2020 ◽  
Vol 9 (20) ◽  
pp. 7548-7557
Author(s):  
Christine Brezden‐Masley ◽  
Kelly E. Fathers ◽  
Megan E. Coombes ◽  
Behin Pourmirza ◽  
Cloris Xue ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Resource Utilization ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Population Based ◽  
Treatment Patterns ◽  
Cancer Stage

Triple-Negative Breast Cancer: A Comparison of Race and Survival

2018 ◽  
Vol 84 (6) ◽  
pp. 881-888
Author(s):  
Matthew P. Doepker ◽  
Scott D. Holt ◽  
Martin W. Durkin ◽  
Christopher H. Chu ◽  
James M. Nottingham
Keyword(s):  
Breast Cancer ◽  
South Carolina ◽  
Black Women ◽  
Cancer Patients ◽  
Triple Negative Breast Cancer ◽  
White Women ◽  
Triple Negative ◽  
Early Stage ◽  
Breast Cancer Patients ◽  
Aggressive Subtype

Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with a high prevalence in blacks. South Carolina demographically has a high percentage of blacks. This study examines survival and recurrence associated with TNBC in black and white women. A retrospective review of breast cancer patients within the Palmetto Health Cancer Registry was performed from 1999 to 2015. Patient demographics and tumor characteristics were collected and correlated with outcomes. Overall survival (OS), disease-specific survival (DSS), and recurrence-free survival (RFS) were analyzed. The total number of breast cancer patients in the registry was 1723 (1085—white and 638—black). The median follow-up was 48.4 months. The majority of cancers diagnosed in both cohorts were early stage (I, IIA, IIB, 93.4% vs 90.4% P = NS). We identified 332 patients with TNBC. Of those 332 patients, 144 (43.4%) were whites and 188 (56.6%) were blacks. Older age (P = 0.01), high-grade (P < 0.001), and black race (P < 0.001) were significantly associated with TNBC on multivariate analysis. Five- and 10-year OS was significantly worse in blacks with TNBC (P < 0.001). There was no difference in DSS or RFS between the two cohorts. TNBC disproportionately affects black women and is an aggressive subtype of breast cancer with limited treatment options compared with receptor-positive breast cancer. Black patients with TNBC in our study had statistically worse OS. These findings are similar to what has been reported in the literature and prompts further research in newer targeted therapies.

scholarly journals BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study

2018 ◽  
Vol 36 (22) ◽  
pp. 2281-2287 ◽  
Author(s):  
Peter A. Fasching ◽  
Sibylle Loibl ◽  
Chunling Hu ◽  
Steven N. Hart ◽  
Hermela Shimelis ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Strong Predictor ◽  
Pathologic Complete Response ◽  
Neoadjuvant Treatment ◽  
Disease Free Survival ◽  
Hazard Ratio ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

Purpose BRCA1/2 mutations are frequent in patients with triple-negative breast cancer (TNBC). These patients are often treated with primary systemic chemotherapy. The aim of this study was to analyze the effects of BRCA1/2 mutations on pathologic complete response (pCR) and disease-free survival (DFS) in a cohort of patients with TNBC treated with anthracycline and taxane–containing chemotherapy, with or without bevacizumab. Patients and Methods Germline DNA was sequenced to identify mutations in BRCA1 and BRCA2 in 493 patients with TNBC from the GeparQuinto study. The pCR rates were compared in patients with and without mutation, as well as in patients treated with and without bevacizumab. In addition, the influence of BRCA1/2 mutation status and pCR status on DFS was evaluated relative to treatment. Results BRCA1/2 mutations were detected in 18.3% of patients with TNBC. Overall, patients with mutations had a pCR rate of 50%, compared with 31.5% in patients without a mutation (odds ratio [OR], 2.17; 95% CI, 1.37 to 3.46; P = .001). The pCR rate among patients treated with bevacizumab was 61.5% for BRCA1/2 mutation carriers and 35.6% for those without mutations (OR, 2.90; 95% CI, 1.43 to 5.89; P = .004). pCR was a strong predictor of DFS for patients without BRCA1/2 mutations (hazard ratio, 0.18; 95% CI, 0.11 to 0.31) but not for patients with BRCA1/2 mutations (hazard ratio, 0.74; 95% CI, 0.32 to 1.69). Conclusion The addition of bevacizumab may increase the pCR after standard neoadjuvant chemotherapy for patients with TNBC with BRCA1/2 mutations. In patients treated with anthracycline and taxane–based chemotherapy (with or without bevacizumab), pCR was a weaker predictor of DFS for BRCA1/2 mutation carriers than for patients without mutations.

Optimizing Chemotherapy in Triple-Negative Breast Cancer: The Role of Platinum

2014 ◽  
pp. e37-e42 ◽  
Author(s):  
Melinda Telli
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Randomized Clinical Trials ◽  
Triple Negative ◽  
Early Stage ◽  
Breast Cancer Subtype ◽  
Brca2 Mutation ◽  
Genetic Alterations ◽  
Brca1 And Brca2 ◽  
Repair Capacity

Although characterization of triple-negative breast cancer (TNBC) using mRNA gene expression profiling has certainly provided important insights, the concept of targeting DNA repair defects with DNA damaging therapeutics such as platinum in TNBC has been advanced from studies focusing on both germline and somatic genetic alterations associated with this breast cancer subtype. A growing body of preclinical and clinical data suggests that platinum chemotherapy has a potential role to play in the treatment of both early-stage and advanced TNBC, though results are not yet definitive. Randomized clinical trials that incorporate biomarkers of response, including germline BRCA1 and BRCA2 mutation status as well as tumor-based measures of genomic “scarring” resulting from the accumulation of DNA damage in tumors with deficient repair capacity, will help to clarify the optimal use and activity of platinum in TNBC.

scholarly journals Mutation Analysis of BRCA1, BRCA2, PALB2 and BRD7 in a Hospital-Based Series of German Patients with Triple-Negative Breast Cancer

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e47993 ◽  
Author(s):  
Franziska Pern ◽  
Natalia Bogdanova ◽  
Peter Schürmann ◽  
Min Lin ◽  
Aysun Ay ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mutation Analysis ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Brca1 Brca2
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