2014
DOI: 10.1016/j.jmoldx.2014.01.005
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Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

Abstract: Hereditary breast/ovarian cancer syndrome is caused by germline deleterious mutations in BRCA1 and BRCA2. A major problem of genetic testing and counseling is the finding of variants of uncertain significance (VUS). We sought to ascertain the pathogenicity of 25 BRCA1 and BRCA2 VUS identified in Portuguese families during genetic testing. We performed cosegregation analysis of VUS with cancer in families, evaluated their frequency in unaffected controls, and looked for loss of heterozygosity in tumors. In addi… Show more

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Cited by 26 publications
(24 citation statements)
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“…Thus, 119 pathogenic mutations were detected in total, of which 41.2% occurred in BRCA1 and 58.8% in BRCA2 . We also identified 70 different VUS, of which two ( BRCA1 c.5122G>C; BRCA2 c.2T>G) have recently been studied in more detail .…”
Section: Discussionmentioning
confidence: 99%
See 2 more Smart Citations
“…Thus, 119 pathogenic mutations were detected in total, of which 41.2% occurred in BRCA1 and 58.8% in BRCA2 . We also identified 70 different VUS, of which two ( BRCA1 c.5122G>C; BRCA2 c.2T>G) have recently been studied in more detail .…”
Section: Discussionmentioning
confidence: 99%
“…Thus, 119 pathogenic mutations were detected in total, of which 41.2% occurred in BRCA1 and 58.8% in BRCA2. We also identified 70 different VUS, of which two (BRCA1 c.5122G>C; BRCA2 c.2T>G) have recently been studied in more detail (7). Two mutations in BRCA1 (c.2037delinsCC and c.3331_3334del) and one in BRCA2 (c.156_157insAlu) together represent about 50% of all deleterious mutations found in Portuguese HBOC families.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Co-occurrence of a VUS with a known disease-causing mutation, either from the same or the other BRCA gene, can provide evidence to classify the variant, especially if it is reported in multiple patients [Goldgar et al, 2008;Cherbal et al, 2012;Santos et al, 2014]. Cooccurrence data are used in two ways: in a Posterior Probability calculation [Goldgar et al, 2004], as it is one of its elements, and as a standalone criterion for classification.…”
Section: Co-occurrencesmentioning
confidence: 99%
“…We detected 53 different nucleotide changes in BMPR2, ACVRL1 and KCNA5 genes in 40 out of 41 PAH patients. Twenty two of these mutations (found in 51% of patients) were considered pathogenic according to the in silico analysis that was performed with several programs to reach a high reliability [21].…”
Section: Discussionmentioning
confidence: 99%