Abstract:
:Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has a positive family history of cancer, presented with contralateral breast cancer and multiple skin malignancies. Genetic testing revealed a frameshift variant in NBN. This gene encodes the protein, nibrin, which is involved in maintaining genomic stability. Several reports have identified heterozygous NBN frameshift (c.2028delT, c.2097dupT, c.657-661delACAAA) and splice site variants (c.1397+delG) in patients with breast cancer. However, our report is the first to describe a heterozygous c.698_701delAACA NBN variant in a patient with breast cancer. Since NBN is involved in DNA integrity, loss of functional protein due to pathogenic variants significantly increases the risk of various cancers. Given the family and personal history of our patient, in connection with previous reports of NBN pathogenic variants predisposition to cancer, this variant is predicted to be pathogenic and clinically significant.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Gass J,Jackson J,Macklin S,Blackburn P,Hines S,Atwal PSdoi
10.1007/s10689-017-9982-0subject
Has Abstractpub_date
2017-10-01 00:00:00pages
551-553issue
4eissn
1389-9600issn
1573-7292pii
10.1007/s10689-017-9982-0journal_volume
16pub_type
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