A new mutation in the PALB2 gene associated with hereditary breast cancer in a young patient belonging to the Yakut ethnic group

Molokov A.Yu.; Gervas P.A.; Zarubin A.A.; Tikhonov D.G.; Cherdyntseva N.V.

doi:10.18137/cardiometry.2022.24.conf.39

Scientific articles \ Applied sciences. Medicine. Technology \ Medical sciences \ Gynaecology. Obstetrics

A new mutation in the PALB2 gene associated with hereditary breast cancer in a young patient belonging to the Yakut ethnic group

Molokov A.Yu. Gervas P.A. Zarubin A.A. Tikhonov D.G. Cherdyntseva N.V.

Журнал: Cardiometry @cardiometry

Статья в выпуске: 24, 2022 года.

Бесплатный доступ

Breast cancer is the most common cancer worldwide. The oncosuppressor gene PALB2, along with such genes as BRCA1 and BRCA2, is involved in the repair of damaged DNA. The incidence of germline mutations in the PALB2 gene in breast cancer and in familial cases of pancreatic cancer is approximately 1-2% and 3-4%, respectively. A clinical case of a 39-year-old woman belonging to the Yakut ethnic group, diagnosed with breast cancer and with a family history of pancreatic cancer, is presented hereby.

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Короткий адрес: https://sciup.org/148326333

IDS: 148326333 | DOI: 10.18137/cardiometry.2022.24.conf.39

Текст статьи A new mutation in the PALB2 gene associated with hereditary breast cancer in a young patient belonging to the Yakut ethnic group

Materials and methods . Genomic DNA was isolated from peripheral blood, DNA libraries were prepared using the Hereditary Cancer Solution™ kit (Sophia Genetics, Switzerland) to study the status of 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Sequencing (2 x 150 bp) was performed using the NextSeq 500 system (Illumina, USA).

Results . According to the results of bioinformatics analysis of the NGS data, a 39-year-old woman, belonging to the Yakut ethnic group, diagnosed with breast cancer and with a family history of pancreatic cancer, was found to have a new germline mutation of the PALB2 gene with a frameshift (NM_024675: Exon1: c.47delA: p.K16FS). According to the PubMed ClinVar db, the new mutation in the PALB2 gene is located in the same codon, where probably the pathogenic splicing mutation site (NM_024675.3: Exon1: c.48+1delG) was previously described, which is involved in the pathogenesis of hereditary forms of breast and ovarian cancer.

Cardiometry, Issue 24, November 2022

Conference Proceedings

Conclusion . For the first time in a 39-year-old woman, belonging to the Yakut ethnic group, diagnosed with breast cancer and with a family history of pancreatic cancer, a new, probably pathogenic, frameshifted PALB2 gene mutation (NM_024675: Exon1: c.47delA: p. K16FS) has been found.

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