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.

Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country

“…Due to these effects, BRCA gene mutations are considered at high risk for the development of BC, as has also been observed in multiple case reports. However, when compared to the age of our patients, they were all much older [1] , [3] , [9] , [22] , [23] .…”

“…Based on the history and test results, the utility of running a genetic test on the patient was considered for detecting a possible genetic mutation. The genetic test was performed using genomic DNA; sequence analysis and deletion/duplication testing were performed for 37 genes included in the: [1] ‘Invitae Breast and Gyn Panel’ and [2] ‘Add-on Preliminary-evidence Genes for Breast and Gyn Cancer’ [13] . Two heterozygous mutations were identified: [1] a loss-of-function pathogenic variant [c.1961dup (p.Tyr655Valfs*18)] of the BRCA1 gene linked with HBOC, also known as 2080insA in literature; and [2] a mutation of unknown significance in SMARCA4 gene [c.4845G > C (p.Glu1615Asp)].…”

“…Breast cancer (BC) forms the highest proportion of cancer cases in both pre- and post-menopausal women worldwide [1] and is the commonest malignancy amongst Pakistani and Asian women [2] . However, it is extremely rare in the pediatric population; amounting up to 0.1 % of the total breast cancers in the US [3] .…”

The <b><i>CHEK2</i></b>*1100delC Mutation and Adolescent Breast Cancer: A Case Report of Breast Cancer in a 19-Year-Old and a Review of the Literature

“…Our patient is one of the youngest patients reported with CHEK2 *1100delC and the youngest reported with an isolated mutation of CHEK2 only. Jóźwik et al [18] reported a fatal case of BC in an 18-year-old Polish female with CHEK2 *1100delC along with 3 other genetic mutations. Huszno et al [3] demonstrated a dichotomous distribution, with CHEK2 *1100delC patients being more often from the extremes of age, i.e., >65 or <35 years.…”