P-ISSN 2587-2400 | E-ISSN 2587-196X
Ejmo Kapak
EJMO Volume : 5 Issue : 3 Year : 2021
EJMO. 2021; 5(3): 273-278 | DOI: 10.14744/ejmo.2021.51470

Identification of a Novel Mutation in Hereditary Breast Cancer in a Family with Wide Spectrum of Atypical Malignancies

Tatiana Kekeeva1, Amulang Shikeeva1, Alexander Tanas1, Vladimir Strelnikov1
1Laboratory of epigenetics, FSBSI Research Centre of Medical Genetics, Moskvorechie, Moskva, Russian Federation,

Due to phenotypic variability, age-related penetrance, and variety of targeted organs, many families with an inherited cancer syndrome will not meet syndrome-specific criteria. We report hereditary breast cancer case in a family with gastric cancer, pancreatic cancer, lung sarcoma and penile cancer, suggesting several alternative hereditary cancer syndromes. Mutation screening by NGS was performed using three panels with BRCA1, BRCA2, TP53, BMPR1A, SMAD4, CDH1, STK11, PTEN genes and 409 genes from Ion AmpliSeq Comprehensive Cancer Panel. In maternal lineage we found a novel mutation c.5193_5194del:p.H1731fs in BRCA2 resulted in HBOC. 7 of 8 tested family members (87.5%) were carriers of the mutation; 4 would have been expected from mendelian ratio of 50%. In order to find out whether the paternal lineage could have another hereditary cancer syndrome we tested paternal uncle with penile carcinoma. 409 gene panel revealed no pathogenic mutations. VUSís identified in this study cannot be used to make clinical decisions. A positive cancer family history in itself is usually not enough to diagnose a cancer syndrome, especially when common type cancers are involved. Chance alone may cause the clustering of cancer (especially in large families) and the number of possible unaffected relatives. Keywords: Hereditary breast cancer, maternal and paternal lineage, novel mutation


Cite This Article

Kekeeva T, Shikeeva A, Tanas A, Strelnikov V. Identification of a Novel Mutation in Hereditary Breast Cancer in a Family with Wide Spectrum of Atypical Malignancies. EJMO. 2021; 5(3): 273-278

Corresponding Author: Tatiana Kekeeva

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