共 164 条
[1]
Thompson D(2004)The genetic epidemiology of breast cancer genes J Mammary Gland Biol Neoplasia 9 221-236
[2]
Easton D(2006)The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability Oncogene 25 5864-5874
[3]
Gudmundsdottir K(2011)Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation Breast Cancer Res Treat 125 325-349
[4]
Ashworth A(2006)Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin Cancer Genet Cytogenet 168 44-49
[5]
Sluiter MD(2009)Genomic rearrangements in BRCA1 and BRCA2: a literature review Genet Mol Biol 32 437-446
[6]
van Rensburg EJ(2002)Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot Am J Hum Genet 70 858-865
[7]
Preisler-Adams S(1996)Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1 Genome Res 6 1029-1049
[8]
Schönbuchner I(2014)A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations Clin Chim Acta 437 72-77
[9]
Fiebig B(2015)Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review Expert Rev Mol Diagn 15 1383-1403
[10]
Welling B(2014)Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection Clin Chem Lab Med 52 1119-1127