TY  - JOUR
AU  - Rashid, Muhammad Usman
AU  - Muhammad, Noor
AU  - Arif, Shumaila
AU  - Naeemi, Humaira
AU  - Hamann, Ute
TI  - Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.
JO  - International journal of cancer
VL  - nn
SN  - 0020-7136
CY  - Bognor Regis
PB  - Wiley-Liss
M1  - DKFZ-2025-01655
SP  - nn
PY  - 2025
N1  - #LA:B072# / epub
AB  - 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
KW  - Pakistan (Other)
KW  - familial breast cancer (Other)
KW  - next‐generation sequencing (Other)
KW  - pathogenic variants (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40749126
DO  - DOI:10.1002/ijc.70070
UR  - https://inrepo02.dkfz.de/record/303442
ER  -