We identified a homozygous missense variant in RECQL5 (NM_004259.7; c.1765 C > T; p.(Arg589Trp)) in a female (UPN083) who presented with short stature (height 154 cm), microcephaly, and a thyroid- and a breast cancer at the age of 46 years. This evidence concerns the gene RECQL5 and breast carcinoma.