Pathogenic Germline Variants in 10,389 Adult Cancers

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art_HUANG_Pathogenic_Germline_Variants_in_10389_Adult_Cancers_2018.PDF (6.16 MB)
Citações na Scopus
500
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
CELL PRESS
Autores
HUANG, Kuan-lin
MASHL, R. Jay
WU, Yige
RITTER, Deborah I.
WANG, Jiayin
OH, Clara
PACZKOWSKA, Marta
REYNOLDS, Sheila
WYCZALKOWSKI, Matthew A.
OAK, Ninad
Citação
CELL, v.173, n.2, p.355-370.e14, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer.
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URI
https://observatorio.fm.usp.br/handle/OPI/30106
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Coleções
Artigos e Materiais de Revistas Científicas - FM/Outros
Artigos e Materiais de Revistas Científicas - IMT
Artigos e Materiais de Revistas Científicas - LIM/14
Artigos e Materiais de Revistas Científicas - ODS/03