Abstract P2-09-05: Multiple-gene panel sequencing prompts no change in care compared to BRCA1 and BRCA2 testing in male breast cancer patients and their families

Author(s):  
F Fostira ◽  
E Saloustros ◽  
I Konstantopoulou ◽  
D Tryfonopoulos ◽  
V Barbounis ◽  
...  
2000 ◽  
Vol 1 (1) ◽  
pp. 57-63 ◽  
Author(s):  
Natalie Wolpert ◽  
Ellen Warner ◽  
Maureen F. Seminsky ◽  
Andrew Futreal ◽  
Steven A. Narod

2020 ◽  
Vol 52 (3) ◽  
pp. 697-713
Author(s):  
Hee-Chul Shin ◽  
Han-Byoel Lee ◽  
Tae-Kyung Yoo ◽  
Eun-Shin Lee ◽  
Ryong Nam Kim ◽  
...  

PurposeHereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an nextgeneration sequencing (NGS)–based multiple-gene panel containing 64 cancer-predisposing genes in Korean breast cancer patients with clinical features of hereditary breast and ovarian cancer syndrome (HBOC).Materials and MethodsA total of 64 genes associated with hereditary cancer syndrome were selected for development of an NGS-based multi-gene panel. Targeted sequencing using the multi-gene panel was performed to identify germline mutations in 496 breast cancer patients with clinical features of HBOC who underwent breast cancer surgery between January 2002 and December 2017.ResultsOf 496 patients, 95 patients (19.2%) were found to have 48 deleterious germline mutations in 16 cancer susceptibility genes. The deleterious mutations were found in 39 of 250 patients (15.6%) who had breast cancer and another primary cancer, 38 of 169 patients (22.5%) who had a family history of breast cancer (≥ 2 relatives), 16 of 57 patients (28.1%) who had bilateral breast cancer, and 29 of 84 patients (34.5%) who were diagnosed with breast cancer at younger than 40 years of age. Of the 95 patients with deleterious mutations, 60 patients (63.2%) had <i>BRCA1/2</i> mutations and 38 patients (40.0%) had non-<i>BRCA1/2</i> mutations. We detected two novel deleterious mutations in <i>BRCA2</i> and <i>MLH1</i>.ConclusionNGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment.


Author(s):  
N Besic ◽  
B Cernivc ◽  
J De Greve ◽  
K Lokar ◽  
M Krajc ◽  
...  

2020 ◽  
Vol 12 ◽  
pp. 175883592095835
Author(s):  
Wei-Ping Li ◽  
Hong-Fei Gao ◽  
Fei Ji ◽  
Teng Zhu ◽  
Min-Yi Cheng ◽  
...  

Background and aims: Male breast cancer is an uncommon disease. The benefit of adjuvant chemotherapy in the treatment of male breast cancer patients has not been determined. The aim of this study was to explore the value of adjuvant chemotherapy in men with stage I–III breast cancer, and we hypothesized that some male patients may safely skip adjuvant chemotherapy. Methods: Male breast cancer patients between 2010 and 2015 from the Surveillance Epidemiology and End Results database were included. Univariate and multivariate Cox analyses were used to analyse the factors associated with survival. The propensity score matching method was adopted to balance baseline characteristics. Kaplan–Meier curves were used to evaluate the impacts of adjuvant chemotherapy on survival. The primary endpoint was survival. Results: We enrolled 514 patients for this study, including 257 patients treated with chemotherapy and 257 patients without. There was a significant difference in overall survival (OS) but not in breast cancer-specific survival (BCSS) between the two groups ( p < 0.001 for OS and p = 0.128 for BCSS, respectively). Compared with the non-chemotherapy group, the chemotherapy group had a higher 4-year OS rate (97.5% versus 95.2%, p < 0.001), while 4-year BCSS was similar (98% versus 98.8%, p = 0.128). The chemotherapy group had longer OS than the non-chemotherapy group among HR+, HER2–, tumour size >2 cm, lymph node-positive male breast cancer patients ( p < 0.05). Regardless of tumour size, there were no differences in OS or BCSS between the chemotherapy and non-chemotherapy cohorts for lymph node-negative patients (OS: p > 0.05, BCSS: p > 0.05). Adjuvant chemotherapy showed no significant effects on both OS and BCSS in patients with stage I (OS: p = 0.100, BCSS: p = 0.858) and stage IIA breast cancer (OS: p > 0.05, BCSS: p > 0.05). Conclusion: For stage I and stage IIA patients, adjuvant chemotherapy could not improve OS and BCSS. Therefore, adjuvant chemotherapy might be skipped for stage I and stage IIA male breast cancer patients.


2008 ◽  
Vol 7 (3) ◽  
pp. 275-279 ◽  
Author(s):  
Rolando Comacho Rodriguez ◽  
Antonio Alejandro Esperon ◽  
Ramon Ropero ◽  
Maria Caridad Rubio ◽  
Ronald Rodriguez ◽  
...  

2015 ◽  
Vol 372 (23) ◽  
pp. 2243-2257 ◽  
Author(s):  
Douglas F. Easton ◽  
Paul D.P. Pharoah ◽  
Antonis C. Antoniou ◽  
Marc Tischkowitz ◽  
Sean V. Tavtigian ◽  
...  

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