Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

doi:10.1111/cas.13464

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Article

Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

Cancer science - 1 Feb 2018

Nakagomi Hiroshi, Mochizuki Hitoshi, Inoue Masayuki, Hirotsu Yosuke, Amemiya Kenji, Sakamoto Ikuko, Nakagomi Satoko, Kubota Takeo, Omata Masao

Abstract excerpt

Utility of combined annotation-dependent depletion (CADD) score was recently reported to rank pathogenicity as C-scores ranging 1-99 for both confirmed deleterious mutation. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (VUS), which had been a major problem of genetic testing for hereditary breast and/or ovarian cancer. We analyzed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29215753
DOI: 10.1111/cas.13464
PMCID: PMC5797818

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.