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Article

Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives.

Journal of medical genetics - 1 Jan 2021

Carvalho Joana, Oliveira Patricia, Senz Janine, São José Celina, Hansford Samantha, Teles Sara Pinto, Ferreira Marta, Corso Giovanni, Pinheiro Hugo, Lemos Diana, Pascale Valeria, Roviello Franco, Huntsman David, Oliveira Carla

Abstract excerpt

BACKGROUND: Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset and disease spectrum of 50 FIGC families and searched for genetic causes potentially underlying a monogenic or an oligogenic/polygenic inheritance pattern. METHODS: Normal and tumour DNA from 50 FIGC probands were sequenced using Illumina custom...

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PMID: 32066632
DOI: 10.1136/jmedgenet-2019-106346

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