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Article

NTHL1 is a recessive cancer susceptibility gene.

Scientific reports - 30 Nov 2023

Nurmi Anna K, Pelttari Liisa M, Kiiski Johanna I, Khan Sofia, Nurmikolu Mika, Suvanto Maija, Aho Niina, Tasmuth Tiina, Kalso Eija, Schleutker Johanna, Kallioniemi Anne, Heikkilä Päivi, Aittomäki Kristiina, Blomqvist Carl, Nevanlinna Heli

Abstract excerpt

In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Genome Aggregation Database. Additionally, we carried out a validation study of SERPINA3 c.918-1G>C, recently suggested for BC predisposition. We estimated the frequencies of 41...

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Identifiers

PMID: 38036545
DOI: 10.1038/s41598-023-47441-w
PMCID: PMC10689455

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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