Breast cancer in an 18-year-old female: A fatal case report and literature review

ABSTRACT

Breast cancer (BC) is the most frequent malignancy in both pre- and postmenopausal women. However, it is exceedingly rare in very young patients, and especially in adolescents. Herein, we report a case of an 18-year-old female diagnosed with invasive BC. The proband had been found to be negative for BC in close family members. A common BC genetic screening test for the Polish population did not detect any known founder mutations in the BRCA1 gene. Further evaluation identified a p.Ile157Thr (I157T) mutation in the CHEK2 gene, a p.Ala1991Val (A1991V) variant of unknown significance in the BRCA2 gene, p.Lys751Gln (K751Q) variant in the XPD (ERCC2) gene, and a homozygous p.Glu1008Ter (E1008*) mutation in the NOD2 gene. No other mutation had been found by next generation sequencing in major BC high-risk susceptibility genes BRCA1, BRCA2, as well as 92 other genes. To date, all these found alterations have been considered as low to moderate risk factors in the general population and moderate risk factors in younger women (<35 years of age). There are no previous articles relating low and moderate risk gene mutations to very young onset (below 20 years) BC with a fatal outcome. In our patient, a possible cumulative or synergistic risk effect for these 4 alterations, and a mutation in the NOD2 gene in particular, of which both presumably healthy parents were found to be carriers, is suggested.

KEYWORDS:

• adolescent
• BRCA2 gene
• breast cancer
• CHEK2 gene
• next generation sequencing
• NOD2 gene
• XPD gene

Disclosure of potential conflicts of interest

No potential conflicts of interest were disclosed.

Acknowledgments

The authors thank Professor Jan Lubiński and his team from the International Hereditary Cancer Center, Pomeranian Medical University, Szczecin for providing the initial results of the genetic analyses. The work at the Medical Genetics Laboratory, DNA Research Center, Poznań was supported by the European Union from resources of the European Regional Development Fund, agreement number UDA-POIG.01.04.00-082/11-00.

Additional information

Funding

The European Union from the European Regional Development Fund.