Predictors and prevalence of germ-line BRCA1 and BRCA2 mutations in high-risk patients screened at a community hospital.

2011 ◽  
Vol 29 (15_suppl) ◽  
pp. e11124-e11124
Author(s):  
S. S. Riaz ◽  
S. Ahsan ◽  
R. E. Bloom
Keyword(s):  
High Risk ◽  
Community Hospital ◽  
Germ Line ◽  
Brca1 And Brca2 ◽  
High Risk Patients ◽  
Risk Patients ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

2018 ◽  
pp. JGO.18.00066 ◽  
Author(s):  
Omalkhair Abulkhair ◽  
Mohammed Al Balwi ◽  
Ola Makram ◽  
Lamia Alsubaie ◽  
Medhat Faris ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Novel Mutation ◽  
Brca Mutation ◽  
Brca1 Gene ◽  
Brca1 And Brca2 ◽  
Brca1 Mutations ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
Saudi Patients

Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.

BRCA1 and BRCA2 Mutations in Breast and Ovarian Cancer Syndrome: Reflection on the Creighton University Historical Series of High Risk Families

2006 ◽  
Vol 5 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Olga M. Sinilnikova ◽  
Sylvie Mazoyer ◽  
Colette Bonnardel ◽  
Henry T. Lynch ◽  
Steven A. Narod ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Historical Series ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
High Risk Families

scholarly journals Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22226-e22226
Author(s):  
A. Kwong ◽  
L. Wong ◽  
C. Wong ◽  
F. Law ◽  
E. Tang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Breast Cancers ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
History Of ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

e22226 Background: Breast cancers due to underlying germline BRCA1 and BRCA2 mutations are associated with particular pathological features that may differ from sporadic breast cancers. We report clinical and pathologic characteristics of breast cancer in a clinical cohort of high risk Chinese women with BRCA mutations and those without mutations. Methods: 202 high risk women based on their age and family history were recruited from March 2007 to November 2008. Medical information was prospectively collected from the patients and medical records. BRCA1 and BRCA2 mutations were detected using full gene sequencing and multiplex ligation-dependent probe amplification (MLPA). Results: Of the 202 female probands tested, 25 (12.3 %) were BRCA mutation carriers of which 11 (44%) were BRCA1 and 14 (56%) were BRCA2 mutations. Breast cancer risk factors, other than family history, did not differ between carriers and non-carriers. Mutation carriers were more likely to have a familial history of breast cancer (p=0.07) and personal and family history of ovarian cancer (p=0.005; p=0.007). Other cancers found in carriers families included pancreatic, gastric, colon, lung, liver, and nasopharyngeal. 23% of women diagnosed with DCIS had BRCA mutations compared with 11.4% of those with invasive cancers. BRCA related tumors were more likely to be ER, PR and Her-2 negative (Triple negative, TN) (p= 0.006). Overall 9.6% of non-BRCA cancers were TN whereas 25.9% of BRCA cancers were TN. Prevalence of TN in BRCA1 carriers is 71% compared with 13.4% in BRCA2 carriers. BRCA1 mutation related cancers were significantly more likely to be ER negative than BRCA2 and this is only significant in those who are under 40 years of age (p=0.070). Conclusions: We have a high BRCA2 mutation rate in our cohort. BRCA related breast cancer is associated with families with increasing number of first degree relatives with breast and/or ovarian cancers and were higher for DCIS cancers. Prevalence of TN breast cancers was high compared to Caucasian cohorts. BRCA mutations were associated with pathologically, poor prognostic features (TN and high grade) especially in younger women. No significant financial relationships to disclose.

Abstract P1-03-06: BRCA1 and BRCA2 mutations in ethnic Lebanese Arab high risk women for hereditary breast cancer

2015 ◽  
Author(s):  
Nagi El Saghir ◽  
Nancy Uhrhammer ◽  
Hussein Assi ◽  
Katia Khoury ◽  
Stephanie Decousous ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Hereditary Breast Cancer ◽  
Brca1 And Brca2 ◽  
High Risk Women ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations
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