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ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer.

Journal of medical genetics - 25 Jun 2026

Wang Yifan, Domecq Celine, Cuggia Adeline, Mejia-Garcia Alejandro, Romero Joan Miguel, Hamel Nancy, Lapointe Rejean, Provencher Diane, Mes-Masson Anne-Marie, Tonin Patricia N, Gravel Simon, Zogopoulos George, Foulkes William D

Abstract excerpt

Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to common ancestral origins. PVs in ATM also increase BC and PC risk; however, ATM founder PVs have not been described in FCs. Here, we report the identification of a...

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Source

Identifiers

PMID: 41916721
DOI: 10.1136/jmg-2025-111441

Genes

ATM
PC
BRCA1
BRCA2
PALB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer.PMID 41916721Read ↗

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