965: Characterization of breast cancer (BC) predisposition variants in high risk BRCA1- and BRCA2-negative BC patients using panel next-gen sequencing

2014 ◽  
Vol 50 ◽  
pp. S235-S236
Author(s):  
F. Lhota ◽  
P. Boudova ◽  
V. Stranecky ◽  
J. Soukupova ◽  
P. Kleiblova ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Brca1 And Brca2 ◽  
Next Gen Sequencing

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.

Characterization of 25-OH vitamin D (Vit D) and factors associated with obesity in patients with high-risk breast cancer (BC): NCIC CTG MA.21.

2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 1578-1578
Author(s):  
E. V. Tsvetkova ◽  
J. W. Chapman ◽  
T. D. Baetz ◽  
M. J. Burnell ◽  
K. A. Gelmon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
High Risk ◽  
Factors Associated ◽  
25 Oh Vitamin D ◽  
High Risk Breast Cancer ◽  
High Risk Breast ◽  
Risk Breast Cancer

Mutation analysis of PALB2 in high-risk and lower-risk patients negative for BRCA1 and BRCA2 mutations.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 30-30
Author(s):  
Shelly Cummings ◽  
Jenny Peterson ◽  
Elisha Hughes ◽  
Rajesh R. Kaldate ◽  
Sonia Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Patients ◽  
Lower Risk ◽  
Risk Group ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Palb2 Mutation

30 Background: PALB2 has been identified as a breast cancer susceptibility gene conferring ~ 2-4 fold increased risk of breast cancer. A number of studies have estimated the PALB2 mutation prevalence to range from 0.5% - 2.9% in populations of breast cancer patients. We performed an analysis to determine the PALB2 mutation prevalence in a large U.S. referral testing population. Methods: DNA samples were anonymized from two subsets of patients: 955 early onset breast cancer patients with severe family history, and 524 patients with later onset of breast cancer and/or less severe family history. All patients were negative for deleterious sequence mutations or large rearrangements in BRCA1 and BRCA2. Results: We identified 10 disease associated PALB2 mutations in the high risk group of 955 patients and 2 deleterious PALB2 mutations in the lower risk group of 524 patients. Identified PALB2 mutations included 8 nonsense, 3 frameshift mutations and a splice site mutation. The mutation prevalence for the high risk population was 1.05% (95% C.I., 0.5 -1.92) whereas that for the lower risk population was 0.38% (95% C.I., 0.05-1.37). The observed rate of PALB2 variants of unknown significance (VUS) identified in this study was ~5% (78 VUS were in 75 of the 1479 patients that were tested). Our variant classification program which successfully decreased the VUS rate in BRCA1 and BRCA2 is similarly expected to enhance mutation classification on an on-going basis for PALB2 genetic testing. Conclusions: Genetic testing for PALB2 may be indicated as a reflex test for breast cancer patients who test negative for BRCA1 and BRCA2.

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations

2007 ◽  
Vol 245 (1-2) ◽  
pp. 90-95 ◽  
Author(s):  
Sei Hyun Ahn ◽  
Byung Ho Son ◽  
Kyung-Sik Yoon ◽  
Dong-Young Noh ◽  
Wonshik Han ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2

scholarly journals Molecular characterization of BRCA1 and BRCA2 genes in breast cancer patients under 40 years-old or with familiar cancer history

BMC Cancer ◽  
2007 ◽  
Vol 7 (Suppl 1) ◽  
pp. A5
Author(s):  
Silvia Millan ◽  
Lucia Chayeb ◽  
Vanessa Camargo ◽  
Olga Hernandez ◽  
Alfonso Dueñas-Gonzalez
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Molecular Characterization ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Cancer History ◽  
Brca1 And Brca2 Genes

scholarly journals Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

BMC Cancer ◽  
2006 ◽  
Vol 6 (1) ◽  
Author(s):  
Francine Durocher ◽  
Yvan Labrie ◽  
Penny Soucy ◽  
Olga Sinilnikova ◽  
Damian Labuda ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Mutation Analysis ◽  
Sequence Variants ◽  
French Canadian

Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer

2011 ◽  
Vol 132 (2) ◽  
pp. 421-428 ◽  
Author(s):  
Juan Zhang ◽  
Renguang Pei ◽  
Zhiyuan Pang ◽  
Tao Ouyang ◽  
Jinfeng Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations ◽  
Brca1 And Brca2

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.

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