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Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.

International journal of cancer - 1 Jan 2021

Preobrazhenskaya Elena V, Shleykina Alla U, Gorustovich Olga A, Martianov Alexandr S, Bizin Ilya V, Anisimova Elena I, Sokolova Tatjana N, Chuinyshena Svetlana A, Kuligina Ekatherina Sh, Togo Alexandr V, Belyaev Alexey M, Ivantsov Alexandr O, Sokolenko Anna P, Imyanitov Evgeny N

Abstract excerpt

PALB2 is а high-penetrance gene for hereditary breast cancer (BC). Our study aimed to investigate the spectrum of PALB2 mutations in Russian cancer patients. PALB2 sequencing revealed pathogenic variants in 3/190 (1.6%) young-onset and/or familial and/or bilateral BC cases but none in 96 ovarian cancer (OC) or 172 pancreatic cancer patients. Subsequently, seven recurrent PALB2 pathogenic alleles were selected...

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Carcinoma
Fanconi Anemia Complementation Group N Protein
Loss of Heterozygosity
Mastectomy

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Medical History Taking

Neoadjuvant Therapy

Poly(ADP-ribose) Polymerase Inhibitors

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PMID: 32997802
DOI: 10.1002/ijc.33317

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