Associated Papers
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A et al.
Expert Review of Molecular Diagnostics, 2015
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
Dobričić J et al.
Journal of Human Genetics, 2013
BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.
Stordal B et al.
Molecular Oncology, 2013
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.
Vodusek AL et al.
Radiology and Oncology, 2011
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
Stegel V et al.
Bmc Medical Genetics, 2011
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M et al.
Breast Cancer Research and Treatment, 2010
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.
Infante M et al.
Clinical Genetics, 2010
No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees.
Allen-Brady K et al.
Bmc Research Notes, 2009
cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation.
Zhang L et al.
Mutation Research, 2009
Functional assays for classification of BRCA2 variants of uncertain significance.
Farrugia DJ et al.
Cancer Research, 2008
BRCA2 mutations as a universal risk factor for pancreatic cancer has a limited role in Korean ethnic group.
Cho JH et al.
Pancreas, 2008
BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
Toh GT et al.
Plos One, 2008
Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.
Loizidou M et al.
Clinical Genetics, 2007
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.
Han SH et al.
Clinical Genetics, 2006
Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.
Giannini G et al.
Breast Cancer Research and Treatment, 2006
Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.
Kim BY et al.
Biochemical and Biophysical Research Communications, 2006
Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma.
Kim YT et al.
Gynecologic Oncology, 2005
Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.
Barber LM et al.
British Journal of Haematology, 2005
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Wu K et al.
Cancer Research, 2005
Familial breast and ovarian cancers.
Arai M et al.
International Journal of Clinical Oncology, 2004
Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.
Popp H et al.
Cytogenetic and Genome Research, 2003
Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis.
Montagna M et al.
International Journal of Cancer, 2002
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
Steinmann D et al.
British Journal of Cancer, 2001
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Gross E et al.
Human Mutation, 2000