Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

Human Genome Variation
Angelo MinucciEttore Capoluongo

Abstract

Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073 A > T variant might play a pathogenic role in HOC syndrome in this family.

References

Aug 12, 2008·Journal of Separation Science·Angelo MinucciEttore Capoluongo
Apr 28, 2011·Human Mutation·Eliseos J MucakiPeter K Rogan
Mar 29, 2014·Clinical Chemistry and Laboratory Medicine : CCLM·Paola ConcolinoEttore Capoluongo
Mar 1, 2015·Breast Cancer Research and Treatment·Lise B AhlbornThomas V O Hansen

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Citations

May 2, 2020·Journal of Assisted Reproduction and Genetics·Ying LiaoLiping Cai

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Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

ENIGMA Network for
Amplicon Suite (
Smart Seq

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