scholarly journals Retrospective Analysis of Clinicopathological Characteristics and Family History Data of Early-Onset Breast Cancer: A Single-Institutional Study of Hungarian Patients

2013 ◽  
Vol 19 (4) ◽  
pp. 723-729 ◽  
Author(s):  
Lilla Madaras ◽  
Zsuzsanna Baranyák ◽  
Janina Kulka ◽  
Attila Marcell Szász ◽  
Attila Kovács ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Retrospective Analysis ◽  
Early Onset ◽  
Clinicopathological Characteristics ◽  
Early Onset Breast Cancer ◽  
History Data

Breast cancer family history as a risk factor for early onset breast cancer

1988 ◽  
Vol 11 (3) ◽  
pp. 263-267 ◽  
Author(s):  
Henry T. Lynch ◽  
Patrice Watson ◽  
Theresa Conway ◽  
Mary Lee Fitzsimmons ◽  
Jane Lynch
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Family History ◽  
Early Onset ◽  
Early Onset Breast Cancer ◽  
Breast Cancer Family ◽  
Cancer Family ◽  
Cancer Family History ◽  
Breast Cancer Family History

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 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

Germline mutation PTCH2 1172-1173delCT in Chinese population with early-onset breast cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13049-e13049
Author(s):  
Lixi Li ◽  
Chunxiao Li ◽  
Fei Ma ◽  
Haili Qian ◽  
Xiuwen Guan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor ◽  
Germline Mutation ◽  
Early Onset ◽  
Hedgehog Signaling ◽  
Susceptibility Gene ◽  
The United States ◽  
Clinicopathological Characteristics ◽  
Early Onset Breast Cancer ◽  
Worse Prognosis

e13049 Background: Early-onset breast cancer has more aggressive clinicopathological characteristics and worse prognosis. The peak age of breast cancer in China is about 40 years old, 10 years ahead of that in Europe and the United States. PTCH2 was characterized as susceptibility gene in early-onset breast cancer by whole exons sequencing in preliminary work. PTCH2 performs as a tumor suppressor in the Hedgehog signaling pathway, but it has never been reported in breast cancer. Methods: 259 women with early-onset breast cancer and 571 women with non-early-onset breast cancer with peripheral blood samples were included for genetic testing. According to the ACMG guidlines, PTCH2 1172-1173delCT was defined as likely pathogenic mutation. To make an in-depth exploration of the function and molecular mechanism of PTCH2 gene, we performed experiments at molcular, cellular and animal level. Results: The frequency 2.3%(6/259)of PTCH2 germline mutation in early-onset breast cancer was significantly higher than that(2/571) in non-early-onset breast cancer( P ＜ 0.05), and increased with the age at diagnosis younger. Bioinformatics analysis showed that the patients with lower expression of PTCH2 had worse prognosis. PTCH2 knockout cells lines promoted the cell proliferation and enhanced the ability of colony formation and tumorigenic ability of nude mice. Furthermore, the expression level of pten in the PTCH2 knockout cell lines was significantly downregulated. Conclusions: Patients with PTCH2 1172-1173delCT mutation had aggressive clinicopathological characteristics and worse prognosis. As a tumor suppressor gene, PTCH2 may promote the incidence of early-onset breast cancer by downregulating the expression of pten and cross-regulating Hedgehog and PI3K/AKT signaling pathways. PTCH2 could be acted as a diagnostic and prognostic biomarker for early-onset breast cancer.

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