Faculty Opinions recommendation of Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

2014 ◽  
Author(s):  
Wade Clapp ◽  
Grzegorz Nalepa
Keyword(s):  
Breast Cancer ◽  
Genetic Susceptibility ◽  
Fanconi Anemia ◽  
Early Onset ◽  
Germline Mutations ◽  
Shared Genetic

scholarly journals Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia

2003 ◽  
Vol 95 (20) ◽  
pp. 1548-1551 ◽  
Author(s):  
K. Offit ◽  
O. Levran ◽  
B. Mullaney ◽  
K. Mah ◽  
K. Nafa ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Brain Tumors ◽  
Genetic Susceptibility ◽  
Fanconi Anemia ◽  
Shared Genetic

BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation

2017 ◽  
Vol 167 (3) ◽  
pp. 803-814 ◽  
Author(s):  
Rafael Canfield Brianese ◽  
Kivvi Duarte de Mello Nakamura ◽  
Fernanda Gabriella dos Santos Ramos Almeida ◽  
Rodrigo Fernandes Ramalho ◽  
Bruna Durães de Figueiredo Barros ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Promoter Methylation ◽  
Early Onset ◽  
Triple Negative ◽  
Germline Mutations ◽  
Comprehensive Analysis ◽  
Recurrent Event

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

scholarly journals Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

2003 ◽  
Vol 95 (6) ◽  
pp. 448-457 ◽  
Author(s):  
G. S. Dite ◽  
M. A. Jenkins ◽  
M. C. Southey ◽  
J. S. Hocking ◽  
G. G. Giles ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2

scholarly journals Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Lenny N. Gallardo-Alvarado ◽  
María Teresa Tusié-Luna ◽  
María Isabel Tussié-Luna ◽  
José Díaz-Chávez ◽  
Yayoi X. Segura ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Tp53 Gene ◽  
Germline Mutations ◽  
Mexican Population ◽  
Early Onset Breast Cancer

TP53 germline mutations in young females with early onset breast cancer in a Mexican population.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e13027-e13027
Author(s):  
Lenny Nadia Gallardo ◽  
Teresa Tusie-Luna ◽  
Maria Isabel Tusie-Luna ◽  
José Díaz-Chávez ◽  
Enrique Macario Herrera Medina ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Germline Mutations ◽  
Mexican Population ◽  
Early Onset Breast Cancer ◽  
Young Females ◽  
Tp53 Germline Mutations

scholarly journals BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

PLoS ONE ◽  
2008 ◽  
Vol 3 (4) ◽  
pp. e2024 ◽  
Author(s):  
Gaik Theng Toh ◽  
Peter Kang ◽  
Sharlene S. W. Lee ◽  
Daphne Shin-Chi Lee ◽  
Sheau Yee Lee ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Malaysian Women

BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer

2008 ◽  
Vol 117 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Weiqiu Chen ◽  
Kaifeng Pan ◽  
Tao Ouyang ◽  
Jinfeng Li ◽  
Tianfeng Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Chinese Women ◽  
Germline Mutations ◽  
Tumor Characteristics ◽  
Early Onset Breast Cancer
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