%0 Journal Article
%A Rashid, Muhammad Usman
%A Muhammad, Noor
%A Arif, Shumaila
%A Naeemi, Humaira
%A Hamann, Ute
%T Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.
%J International journal of cancer
%V nn
%@ 0020-7136
%C Bognor Regis
%I Wiley-Liss
%M DKFZ-2025-01655
%P nn
%D 2025
%Z #LA:B072# / epub
%X 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 of 160 familial BC patients previously tested negative for protein-truncating variants in BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53 using conventional methods were included. Next-generation sequencing (NGS) was performed using the Illumina MiSeq platform, and all identified P/LP variants were validated by Sanger sequencing. Twenty-four unique P/LP variants were identified across seven genes: BRCA1 (n = 10), BRCA2 (n = 6), TP53 (n = 3), CHEK2 (n = 2), PALB2, ATM, and RAD51C (n = 1 each). Two recurrent BRCA1 variants, p.Gln169Ter and p.Val757Phefs*8, were identified in three patients each. NGS-detected P/LP variants were identified in 18.1
%K Pakistan (Other)
%K familial breast cancer (Other)
%K next‐generation sequencing (Other)
%K pathogenic variants (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40749126
%R 10.1002/ijc.70070
%U https://inrepo02.dkfz.de/record/303442