Article
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Journal of medical genetics - 1 May 2022
Ng Pei Sze, Boonen Rick Acm, Wijaya Eldarina, Chong Chan Eng, Sharma Milan, Knaup Sabine, Mariapun Shivaani, Ho Weang Kee, Lim Joanna, Yoon Sook-Yee, Mohd Taib Nur Aishah, See Mee Hoong, Li Jingmei, Lim Swee Ho, Tan Ern Yu, Tan Benita Kiat-Tee, Tan Su-Ming, Tan Veronique Kiat-Mien, van Dam Rob Martinus, Rahmat Kartini, Yip Cheng Har, Carvalho Sara, Luccarini Craig, Baynes Caroline, Dunning Alison M, Antoniou Antonis, van Attikum Haico, Easton Douglas F, Hartman Mikael, Teo Soo Hwang
Abstract excerpt
BACKGROUND: Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (PALB2) confer increased risk to breast cancer, but relatively few studies have reported the prevalence in South-East Asian populations. Here, we describe the prevalence of rare variants in PALB2 in a population-based study of 7840 breast cancer cases and 7928 healthy Chinese, Malay and Indian women from Malaysia and Singapore,...
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