scholarly journals BRCA mutations among triple negative breast cancer without family history of breast and ovarian cancer: The Modena family cancer clinic experience

2019 ◽  
Vol 30 ◽  
pp. iii15
Author(s):  
E. Molinaro ◽  
M. Venturelli ◽  
A. Toss ◽  
C. Piombino ◽  
E. Barbieri ◽  
...  
2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1090-1090 ◽  
Author(s):  
Kerstin Rhiem ◽  
Christoph Engel ◽  
Jutta Engel ◽  
Dieter Niederacher ◽  
Christian Sutter ◽  
...  

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e12579-e12579
Author(s):  
Patricia Rioja ◽  
Rossana Ruiz ◽  
Zaida Morante ◽  
Raul Mantilla ◽  
Gabriel Antonio De la Cruz Ku ◽  
...  

e12579 Background: Triple negative breast cancer (TNBC) seems to be associated with a hereditary disease cause based on the earlier age of onset, the high rate of TNBC cases with a positive family history of cancer, and the higher prevalence of breast cancer susceptibility genes. The impact of family history in breast and/or ovarian cancer (FHBOC) in TNBC overall survival is unclear, we conducted this study to evaluate this factor in a Peruvian cohort. Methods: Retrospectively reviewed the medical files from TNBC patients diagnosed at Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru, from 2000 to 2014. New cases with histologically confirmed TNBC defined as lack of expression of estrogen and progesterone receptors by immunohistochemistry and HER2- were included. A positive FHBOC was defined as a history of breast and/or ovarian cancer in 1st, 2nd and/or 3rd degree relatives at any age. Patients who had three affected relatives in two generations with two of them being first-degree relatives were considered as exhibiting a clinical autosomal dominant (AD) inheritance pattern. Results: 2006 patients, 99.8% were females. Mean age was 50.2 years old (19 - 95) and 54.6% were postmenopausal. According clinical staging: stage I, 7.2%; stage II, 34.2%; stage III, 51.0%; and stage IV, 6.5%. 76.5% of women underwent surgery. 13% (n=266) had a positive FHBOC. Of these, 44.0% (n=117), 35.0% (n=93), and 13.5% (n=36) had 1st, 2nd, and 3rd degree affected relatives, respectively. An AD inheritance pattern was observed in 20.7% (n=55) of patients with FHBOC. With a median follow-up of 80 months (range 0 - 249), 5y-overall survival (OS) for the whole population was 53.8%. 5 year-OS was significantly better in patients with FHBOC as compared to those without it; 64.5% vs. 52.2%, respectively (HR 0.73; 95% CI [0.60-0.88] p=0.001). FHBOC showed a positive impact on survival rates among patients with stages III and IV (5-year OS 42.3% vs. 32.7%; HR 0.79; 95% CI [0.64-0.99], p=0.041) but not in stages I and II (5-year OS 88.4% vs. 81.3%; HR 0.72; 95% CI [0.49-1.08], p=0.11). The 5y-OS for the patients with an AD inheritance pattern was 70.9%. However, pairwise multiple comparison did not find a significant difference between these patients and those with FHBOC without an AD inheritance pattern (62.8%). On multivariate analysis, FHBOC (HR: 0.80; 95% CI [0.66-0.97], p=0.023), had an independent effect on OS, adjusted for age, menopausal status, clinical stage and surgery. Conclusions: A positive FHBOC was associated with an improved survival in patients with TNBC, suggesting FHBOC as an independent prognostic factor. These results need validation and confirmation through additional retrospective cohorts and analysis in prospective clinical trials.


SpringerPlus ◽  
2014 ◽  
Vol 3 (1) ◽  
pp. 727 ◽  
Author(s):  
Kristin Anderson ◽  
Patricia A Thompson ◽  
Betsy C Wertheim ◽  
Lorena Martin ◽  
Ian K Komenaka ◽  
...  

2004 ◽  
Vol 90 (7) ◽  
pp. 1378-1381 ◽  
Author(s):  
L Thalib ◽  
S Wedrén ◽  
F Granath ◽  
H-O Adami ◽  
B Rydh ◽  
...  

2010 ◽  
Vol 126 (3) ◽  
pp. 671-678 ◽  
Author(s):  
Amanda I. Phipps ◽  
Diana S. M. Buist ◽  
Kathleen E. Malone ◽  
William E. Barlow ◽  
Peggy L. Porter ◽  
...  

2011 ◽  
Vol 29 (27_suppl) ◽  
pp. 163-163 ◽  
Author(s):  
M. Jackson ◽  
D. Mattair ◽  
H. Lin ◽  
A. M. Gutierrez-Barrera ◽  
N. Elsayegh ◽  
...  

163 Background: Germline mutations in the BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancer (HBOC). Comprehensive gene sequencing detects ~87% of BRCA mutations, and large genomic rearrangement testing (BART) accounts for ~3%. Criteria have been established to capture individuals who most likely have a BART mutation, however, recent data shows that some individuals have BART mutations and do not meet the criteria. We conducted a single-institution study to evaluate the sufficiency of BART criteria to determine if new criteria are warranted. Methods: During 2006-2008, 172 individuals underwent BRCA sequencing and BART at M. D. Anderson Cancer Center. A retrospective, IRB-approved chart review of a prospectively maintained database was conducted to determine BART criteria eligibility, personal/family history of breast and ovarian cancer and tumor characteristics. Univariate and multivariate analysis was performed to test the significance of each variable in relation to BRCA1/BRCA2 positivity. Results: Of 172 individuals, 12/34 (35%) had BRCA1 BART mutations, and 7/11 (64%) had BRCA2 BART mutations. Of the 19 individuals who tested positive for BART mutations, only 8 (42%) met BART criteria and 11 (58%) did not and proceeded with BART for various reasons (family history, insurance covered, and patient request). Individuals who were BRCA1 positive (sequencing or BART) were more likely to have ER/PR negative breast cancer (p<0.0001) and a personal (p=0.0215)/family history of ovarian cancer (p=0.0001) compared to non-carriers and individuals who had no family history Individuals who were BRCA1 sequencing positive were more likely to meet BART criteria than BRCA1 BART positive (p=0.0151) individuals. Conclusions: Given that no significant differences in family history/tumor characteristics between individuals who have sequencing and BART mutations were identified, and a majority of individuals who were BART positive do not meet BART criteria, it appears that these criteria may be insufficient. BART testing should be considered for all individuals who undergo BRCA sequencing; however, large scale collaboration studies should be conducted.


Sign in / Sign up

Export Citation Format

Share Document