Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample

Genes involved in the homologous recombination repair pathway—as exemplified by BRCA1, BRCA2, PALB2, ATM, and CHEK2—are frequently associated with hereditary breast and ovarian cancer syndrome. Germline mutations in the loci of these genes with loss of heterozygosity or additional somatic truncation...

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Veröffentlicht in:	Cancer science 2021-03, Vol.112 (3), p.1310-1319
Hauptverfasser:	Yoshida, Reiko, Hagio, Taichi, Kaneyasu, Tomoko, Gotoh, Osamu, Osako, Tomo, Tanaka, Norio, Amino, Sayuri, Yaguchi, Noriko, Nakashima, Eri, Kitagawa, Dai, Ueno, Takayuki, Ohno, Shinji, Nakajima, Takeshi, Nakamura, Seigo, Miki, Yoshio, Hirota, Toru, Takahashi, Shunji, Matsuura, Masaaki, Noda, Tetsuo, Mori, Seiichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Ataxia Telangiectasia Mutated Proteins - genetics Biomarkers Biomarkers, Tumor - genetics BRCA1 protein BRCA1 Protein - genetics BRCA2 protein BRCA2 Protein - genetics BRCAness Breast - pathology Breast - surgery Breast cancer Breast Neoplasms - genetics Breast Neoplasms - pathology Breast Neoplasms - surgery Checkpoint Kinase 2 - genetics Datasets as Topic DNA Mutational Analysis Epigenetics Exome - genetics Fanconi Anemia Complementation Group N Protein - genetics Female Genes Genetic Predisposition to Disease Genetic screening Genetic Testing - methods Genomes Genomics Germ-Line Mutation hereditary breast and ovarian cancer syndrome Heterozygosity Homologous Recombination homologous recombination deficiency Homologous recombination repair Humans Lasso logistic regression Loss of heterozygosity Mastectomy Mathematical models Medical research Middle Aged Models, Genetic Mutation Original Ovarian cancer Pathogenicity Reclassification Tumorigenesis Tumors variants of uncertain significance Whole Exome Sequencing
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