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Table 3 Patient’s characteristics of PALB2 truncating and putative deleterious missense mutations

From: PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China

Nucleotide change Type Ethnic group Age at diagnosis HR HER-2 Inclusion reason
c.3294_3298delTCGTC Frameshift Han 65 1 1 2 daughters BC
c.509-510delGA Frameshift han 44 1 0 Mother and sister BC
c.1039_1040insA Frameshift Han 46 0 0 Bilateral BC
c.2386 G>T Nonsense Uyghur 33 0 0 mother BC
c.3035C>T Missense Han 45 1 0 sister BC
c.2720A>G Missense Kazakh 41 0 0 sister BC
c.3054G>C Missense Han 50 0 1 aunt BC
Han 34 1 0 Early onset
c.64G>A Missense Han 50 0 0 BI-BC and mother BC
  1. BC breast cancer, BI-BC bilateral breast cancer, HR hormone receptor, HER-2 human epidermal growth factor receptor 2