Associated Papers
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
Kowalik A et al.
Plos One, 2018
30040829 (PubMed )
Supplement: pone.0201086.s009.xlsx › S2_Table_Pathogenic
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
26023681 (PubMed )
Supplement: mmc1.pdf
BRCA1 haploinsufficiency for replication stress suppression in primary cells.
Pathania S et al.
Nature Communications, 2014
Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
Singer CF et al.
Clinical Genetics, 2014
BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
Weghofer A et al.
Plos One, 2012
Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.
Miolo G et al.
Bmc Cancer, 2009
BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.
Sinilnikova OM et al.
Familial Cancer, 2006
A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene.
Kuperstein G et al.
Genetic Testing, 2006
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.
Kroiss R et al.
Human Mutation, 2005
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.
Casey MJ et al.
Gynecologic Oncology, 2005
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.
Adem C et al.
Cancer, 2003
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.
Perrin-Vidoz L et al.
Human Molecular Genetics, 2002
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.
Wagner T et al.
Genomics, 1999
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