TY - JOUR
T1 - Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption
T2 - a case report
AU - Deuitch, Natalie
AU - Li, Shao Tzu
AU - Courtney, Eliza
AU - Shaw, Tarryn
AU - Dent, Rebecca
AU - Tan, Veronique
AU - Yackowski, Lauren
AU - Torene, Rebecca
AU - Berkofsky-Fessler, Windy
AU - Ngeow, Joanne
N1 - Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. Subsequent reanalysis for MEIs detected a novel likely pathogenic insertion of the retrotransposon element (RE) c.7894_7895insSVA in BRCA2. This case highlights the importance of bioinformatic pipeline optimization for the detection of MEIs in genes associated with hereditary cancer, as early detection can significantly impact clinical management.
AB - Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. Subsequent reanalysis for MEIs detected a novel likely pathogenic insertion of the retrotransposon element (RE) c.7894_7895insSVA in BRCA2. This case highlights the importance of bioinformatic pipeline optimization for the detection of MEIs in genes associated with hereditary cancer, as early detection can significantly impact clinical management.
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U2 - 10.1038/s41439-020-00111-z
DO - 10.1038/s41439-020-00111-z
M3 - Article
AN - SCOPUS:85089910130
SN - 2054-345X
VL - 7
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 24
ER -
