A new mutation in the PALB2 gene associated with hereditary breast cancer in a young patient belonging to the Yakut ethnic group
Автор: Molokov A.Yu., Gervas P.A., Zarubin A.A., Tikhonov D.G., Cherdyntseva N.V.
Журнал: Cardiometry @cardiometry
Статья в выпуске: 24, 2022 года.
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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.
Короткий адрес: https://sciup.org/148326333
IDR: 148326333 | DOI: 10.18137/cardiometry.2022.24.conf.39
Список литературы A new mutation in the PALB2 gene associated with hereditary breast cancer in a young patient belonging to the Yakut ethnic group
- Hanenberg H., Andreassen P.R. PALB2 (partner and localizer of BRCA2). Atlas Genet Cytogenet Oncol Haematol. 2018; 22 (12): 484-490.
- Hofstatter E.W., Domchek S.M., Miron A., Garber J., Wang M., Componeschi K., Boghossian L., Miron P.L., Nathanson K.L., Tung N. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 2011; 10 (2): 225-231.
- Jones S., Hruban R.H., Kamiyama M., et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009; 324 (5924): 217.
- Slater E.P., Langer P., Niemczyk E., et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010; 78 (5): 490-494.
- Tischkowitz M.D., Sabbaghian N., Hamel N., et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009; 137 (3): 1183-1186.
