Article
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Cancer science - 1 Mar 2021
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
Abstract excerpt
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 at the WT allele lead to the development of breast cancers with characteristic clinicopathological features and...
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