Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer.

doi:10.1158/1055-9965.EPI-20-1457

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Article

Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 May 2021

Matejcic Marco, Shaban Hiba A, Quintana Melanie W, Schumacher Fredrick R, Edlund Christopher K, Naghi Leah, Pai Rish K, Haile Robert W, Levine A Joan, Buchanan Daniel D, Jenkins Mark A, Figueiredo Jane C, Rennert Gad, Gruber Stephen B, Li Li, Casey Graham, Conti David V, Schmit Stephanie L

Abstract excerpt

BACKGROUND: Inherited susceptibility is an important contributor to colorectal cancer risk, and rare variants in key genes or pathways could account in part for the missing proportion of colorectal cancer heritability. METHODS: We conducted an exome-wide association study including 2,327 cases and 2,966 controls of European ancestry from three large epidemiologic studies. Single variant associations were tested...

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Identifiers

PMID: 33627384
DOI: 10.1158/1055-9965.EPI-20-1457
PMCID: PMC8102340

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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