[HTML][HTML] BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
DM Eccles, G Mitchell, ANA Monteiro, R Schmutzler… - Annals of oncology, 2015 - Elsevier
Background Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension
of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from …
of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from …
A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer
F Karami, P Mehdipour - BioMed research international, 2013 - Wiley Online Library
Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and
BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for …
BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for …
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
R Janavičius - EPMA journal, 2010 - Springer
Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2
genes is an effective method of cancer prevention and early detection. Different ethnic and …
genes is an effective method of cancer prevention and early detection. Different ethnic and …
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
O ElBiad, A Laraqui, F El Boukhrissi, C Mounjid… - BMC cancer, 2022 - Springer
Background Elucidation of specific and recurrent/founder pathogenic variants (PVs) in
BRCA (BRCA1 and BRCA2) genes can make the genetic testing, for breast cancer (BC) …
BRCA (BRCA1 and BRCA2) genes can make the genetic testing, for breast cancer (BC) …
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
Y Laitman, TM Friebel, D Yannoukakos… - Human …, 2019 - Wiley Online Library
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe
is not well characterized. The unique history and cultural practices characterizing these …
is not well characterized. The unique history and cultural practices characterizing these …
[HTML][HTML] Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein …
H Li, C Engel, M De la Hoya, P Peterlongo… - Genetics in …, 2022 - Elsevier
Purpose Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical
practice for> 2 decades. However, no studies have compared the cancer risks associated …
practice for> 2 decades. However, no studies have compared the cancer risks associated …
BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far
BRCA1 gene mutations account for about 25-28% of hereditary Breast Cancer as BRCA1 is
included in the category of high penetrance genes. Except for few commonmutations, there …
included in the category of high penetrance genes. Except for few commonmutations, there …
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
A Peixoto, C Santos, P Rocha, M Pinheiro… - Breast cancer research …, 2009 - Springer
We evaluated the contribution of an Alu insertion in BRCA2 exon 3 (c. 156_157insAlu) to
inherited predisposition to breast/ovarian cancer in 208 families originated mostly from …
inherited predisposition to breast/ovarian cancer in 208 families originated mostly from …
Rapid detection of carriers with BRCA1 and BRCA2mutations using high resolution melting analysis
EA Takano, G Mitchell, SB Fox, A Dobrovic - BMC cancer, 2008 - Springer
Background Germline inactivating mutations in BRCA1 and BRCA2 underlie a major
proportion of the inherited predisposition to breast and ovarian cancer. These mutations are …
proportion of the inherited predisposition to breast and ovarian cancer. These mutations are …
[图书][B] Fundamentals of cancer prevention
D Alberts, LM Hess - 2013 - books.google.com
This authoritative work is an essential reference guide and tool for oncologists, primary care
physicians, the research community, and students with an interest in reducing the burden of …
physicians, the research community, and students with an interest in reducing the burden of …