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Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.

International journal of cancer - 15 Nov 2025

Rashid Muhammad Usman, Muhammad Noor, Arif Shumaila, Naeemi Humaira, Hamann Ute

Abstract excerpt

Pathogenic/likely pathogenic (P/LP) variants in high-, moderate-, and low-penetrance genes account for approximately half of all familial breast cancer (BC) cases. In Pakistan, data on P/LP variants beyond BRCA1/2 remain limited. This study investigated the frequency and distribution of P/LP variants in Pakistani familial BC patients using a 14-gene hereditary breast and ovarian cancer (HBOC) core panel. A total...

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Source

Identifiers

PMID: 40749126
DOI: 10.1002/ijc.70070

Genes

BRCA1
BRCA2
CHEK2
PALB2
RAD51C
TP53
ATM
RAD51D

Variants

Provenance

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