The Present and Future of the Treatment of Hereditary Breast Cancer

2021 ◽  
pp. 65-74
Author(s):  
Jose Russo
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer

Breaking the rule of nondirectiveness: the psychological impact of early identification of breast cancer patients at risk for hereditary breast cancer

2002 ◽  
Author(s):  
K. J. Schlich-Bakker ◽  
F. J. M. Grosfeld ◽  
H. F. J. Kroode ◽  
C. C. Warlam-Rodenhuis ◽  
M. G. E. M. Ausems ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Cancer Patients ◽  
Early Identification ◽  
Hereditary Breast Cancer ◽  
Psychological Impact ◽  
Breast Cancer Patients ◽  
Patients At Risk

Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer

2018 ◽  
Author(s):  
I Sepahi ◽  
U Faust ◽  
M Sturm ◽  
K Bosse ◽  
M Kehrer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Hereditary Breast Cancer ◽  
Dna Repair Genes ◽  
Repair Genes

Expression intensity and localization of BAP1 in hereditary breast cancer is associated with poor prognosis

2020 ◽  
Author(s):  
V Docheva ◽  
T Kolben ◽  
A Koelbl ◽  
E Gross ◽  
A Meindl ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Poor Prognosis ◽  
Expression Intensity

scholarly journals Monoallelic MUTYH mutations and hereditary breast cancer - results of an epidemiologic study in Brazil

The Breast ◽  
2021 ◽  
Vol 56 ◽  
pp. S35-S36
Author(s):  
R.O. Sant’Ana ◽  
I.J.L. Silva ◽  
C.G. Picanço-Albuquerque ◽  
P.G.B. Silva ◽  
M.V.A. Lima ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Epidemiologic Study

scholarly journals Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer

2019 ◽  
Vol 37 (24) ◽  
pp. 2176-2177 ◽  
Author(s):  
Amy Taylor ◽  
Marc Tischkowitz
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Caveat Emptor ◽  
Panel Testing

scholarly journals MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors

2014 ◽  
pp. n/a-n/a ◽  
Author(s):  
Miljana Tanic ◽  
Kira Yanowski ◽  
Gonzalo Gómez-López ◽  
María Socorro Rodriguez-Pinilla ◽  
Iván Marquez-Rodas ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Breast Tumors ◽  
Microrna Expression ◽  
Formalin Fixed

scholarly journals Clinical and genetic characterization of hereditary breast cancer in a Chinese population

2017 ◽  
Vol 15 (1) ◽  
Author(s):  
Wenjing Jian ◽  
Kang Shao ◽  
Qi Qin ◽  
Xiaohong Wang ◽  
Shufen Song ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Chinese Population ◽  
Genetic Characterization

scholarly journals Detection of a novel mutation in exon 20 of the BRCA1 gene

2013 ◽  
Vol 18 (4) ◽  
Author(s):  
Abhijit Chakraborty ◽  
Atul Katarkar ◽  
Keya Chaudhuri ◽  
Ashis Mukhopadhyay ◽  
Jayasri Basak
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor ◽  
Hereditary Breast Cancer ◽  
Tumor Suppressor Genes ◽  
Novel Mutation ◽  
Mutation Screening ◽  
Brct Domain ◽  
Globular Domain ◽  
Suppressor Genes ◽  
Exon 20

AbstractHereditary breast cancer constitutes 5–10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with structural and functional effects have been documented within the BRCT domain. Interpreting the results of mutation screening of tumor-suppressor genes that can have high-risk susceptibility mutations is increasingly important in clinical practice. This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. In silico analysis suggests that this mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.

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