Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore

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-ba...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046754/
https://www.ncbi.nlm.nih.gov/pubmed/33811135
http://dx.doi.org/10.1136/jmedgenet-2020-107471

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