scholarly journals Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations

2011 ◽  
Vol 2 (6) ◽  
pp. 1163-1170 ◽  
Author(s):  
SUMADEE DE SILVA ◽  
KAMANI H. TENNEKOON ◽  
ERIC H. KARUNANAYAKE ◽  
WASANTHI DE SILVA ◽  
INDRANI AMARASINGHE ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Sequence Variants ◽  
Sri Lankan ◽  
Breast Cancer Patients ◽  
Brca1 Mutations

scholarly journals Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals

BMC Cancer ◽  
2008 ◽  
Vol 8 (1) ◽  
Author(s):  
Wasanthi De Silva ◽  
Eric H Karunanayake ◽  
Kamani H Tennekoon ◽  
Marie Allen ◽  
Indrani Amarasinghe ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Cancer Patients ◽  
High Frequency ◽  
Sequence Variants ◽  
Sri Lankan ◽  
Breast Cancer Patients

Abstract PO-139: BRCA sequence variants in breast cancer patients with African ancestry

2022 ◽  
Author(s):  
Solange Bayard ◽  
Rachel Martini ◽  
Yalei Chen ◽  
Brittany Jenkins ◽  
Isra Elhussin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
African Ancestry ◽  
Sequence Variants ◽  
Breast Cancer Patients

513 POSTER Characteristic and outcome of young breast cancer patients with and without BRCA1 mutations

2007 ◽  
Vol 5 (4) ◽  
pp. 93
Author(s):  
D. Gabrys ◽  
K. Behrendt ◽  
E. Grzybowska ◽  
R. Suwinski ◽  
A. Idasiak ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca1 Mutations ◽  
Young Breast Cancer

ATM sequence variants and adverse radiotherapy response in breast cancer patients

2004 ◽  
Vol 60 ◽  
pp. S207-S208
Author(s):  
B ROSENSTEIN ◽  
C ANDREASSEN ◽  
J ALSNER ◽  
M OVERGAARD ◽  
J CESARETTI ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Sequence Variants ◽  
Breast Cancer Patients

scholarly journals Analysis of clinical characteristics in breast cancer patients with the Japanese founder mutation of BRCA1 L63X.

2015 ◽  
Vol 33 (28_suppl) ◽  
pp. 22-22
Author(s):  
Reiko Yoshida ◽  
Mayuko Inuzuka ◽  
Tomoko Watanabe ◽  
Junko Yotsumoto ◽  
Takashi Kuwayama ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Clinical Characteristics ◽  
Founder Mutation ◽  
Breast Cancers ◽  
Pathological Features ◽  
Breast Cancer Patients ◽  
Breast And Ovarian Cancer ◽  
Brca1 Mutations

22 Background: Hereditary breast and ovarian cancer (HBOC) is a high-penetrance inherited disease, and founder mutation has been reported in the West. However, there are yet no reports of founder mutation of HBOC on breast cancer in the Japanese population. In this study, we report the breast cancer clinical characteristics of L63X, which is one of the founder mutations in BRCA1 in the Japanese population. Methods: Data on 223 affected breast cancer patients (28 BRCA1 carriers, 19 BRCA2 carriers, and 176 non-carriers) were collected at Showa University in Tokyo from September 2010 to June 2015. In 22 independent mutations of BRCA1, the L63X mutation was detected in 9 patients. Data regarding the age of breast cancer onset, pathological features, clinical features, and family history were collected. Results: The age of onset was no significant differences between the L63X mutation and other BRCA1 mutations (39.7 vs. 38.5years). The proportion of triple negative breast cancer patients was 87.5% in the L63X mutation carriers and 89.5% in other BRCA1 mutation carriers. No patients of the L63X affected bilateral breast cancers. On the other hand, 36.7% of other BRCA1mutations affected bilateral breast cancers. There was no significant difference in pathological features (intrinsic subtype, nuclear grade and ki-67 index). The L63X carriers tended to have a family history of breast cancers. All L63X mutations were detected in the Eastern part of Japan. Conclusions: The breast cancer clinical characteristics of L63X might be considered no different from other types of BRCA1 mutations. Recently, it has been reported that breast and ovarian cancer risks varied according to the type and location of BRCA1/2 mutations. L63X mutation is located in the breast cancer cluster region in BRCA1. Further investigation is necessary for appropriate validation and accumulation of data.

Feature

2009 ◽  
Vol 13 (03) ◽  
pp. 22-36
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Large Family ◽  
Breast Cancer Patients ◽  
Brca1 Mutations

Do Asian Breast Cancer Patients Have Poorer Survival Than Their Western Counterparts? A Comparison Between Singapore and Stockholm. Large Family With Both Parents Affected by Distinct BRCA1 Mutations: Implications For Genetic Testing.

scholarly journals Analysis of BRCA1and BRCA2 large genomic rearrangements in Sri Lankan familial breast cancer patients and at risk individuals

2014 ◽  
Vol 7 (1) ◽  
pp. 344 ◽  
Author(s):  
Sumadee De Silva ◽  
Kamani Tennekoon ◽  
Eric Karunanayake ◽  
Indrani Amarasinghe ◽  
Preethika Angunawela
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Genomic Rearrangements ◽  
Sri Lankan ◽  
Breast Cancer Patients ◽  
Large Genomic Rearrangements

Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients

2016 ◽  
Vol 16 (3) ◽  
pp. 329-338
Author(s):  
Sumadee De Silva ◽  
Kamani Hemamala Tennekoon ◽  
Aravinda Dissanayake ◽  
Kanishka De Silva ◽  
Lakshika Jayasekara
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Brca2 Gene ◽  
Sri Lankan ◽  
Breast Cancer Patients ◽  
Pathogenic Variants ◽  
Exon 11 ◽  
Young Breast Cancer
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