TY  - JOUR
AU  - Muhammad, Noor
AU  - Naeemi, Humaira
AU  - Arif, Shumaila
AU  - Hamann, Ute
AU  - Rashid, Muhammad Usman
TI  - Anticipation effect in Pakistani breast cancer families with or without BRCA1/2 pathogenic variants.
JO  - Cancer epidemiology
VL  - 96
SN  - 1877-7821
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DKFZ-2025-00456
SP  - 102782
PY  - 2025
AB  - Genetic anticipation refers to the earlier onset of breast cancer (BC) in successive generations, is underreported in Asian populations. This study investigates the phenomenon in Pakistani familial BC patients.The study analyzed 171 mother-daughter BC pairs, including BRCA1 (n = 52), BRCA2 (n = 11) pathogenic variant (PV) carriers, and non-carriers (n = 108). Additionally, 741 first-degree female relatives of the mothers and daughters, affected (n = 96) or unaffected (n = 645) with BC, were included. Ages at BC diagnosis in mother-daughter pairs were compared using a paired t-test, while differences in BC occurrence between daughters' and mothers' generations were assessed using odds ratios (ORs).Daughters were diagnosed with BC significantly earlier than their mothers, with intergenerational age differences of 14.3 years in BRCA1 (33.7 vs. 48.0; P < 0.0001), 11.5 years in BRCA2 (37.4 vs. 48.9; P < 0.0001) PV carriers, and 12.6 years in non-carriers (41.3 vs. 53.9; P < 0.0001). This difference was independent of birth cohort effects and ascertainment bias. While BC incidence was 20 
KW  - BRCA1/2 pathogenic variants (Other)
KW  - Breast cancer (Other)
KW  - Genetic anticipation (Other)
KW  - Mother-daughter pairs (Other)
KW  - Pakistan (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40015231
DO  - DOI:10.1016/j.canep.2025.102782
UR  - https://inrepo02.dkfz.de/record/299497
ER  -