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 |