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. 2021 Mar 1;188(1):237–248. doi: 10.1007/s10549-021-06152-4

Table 3.

List of putative loss-of-function VUS (frameshift deletion, stop gain, start loss, splice site variant)

Gene (Reference sequences) Variant nomenclature Variant classification Cancers diagnosed in the patient
APC c.1A > G, p.Met1Val Start loss Ovary
BRCA2 c.8954-5_8954-2delAACA Splice variant Ovary
c.7617 + 2dupT Splice variant Primary Peritoneal
MSH2 c.792 + 3A > T Splice variant Breast
RECQL c.2 T > C, p.Met1Thr Start loss Breast
RECQL c.2 T > C, p.Met1Thr Start loss Breast
RAD51C c.571 + 5G > A Splice variant Breast

XRCC2

(NM_005431.1)

c.832G > T, p.Glu278* Stop gain Breast