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21.05.2022 | Original Article

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations

verfasst von: G. A. Yanus, E. L. Savonevich, A. P. Sokolenko, A. A. Romanko, V. I. Ni, E. Kh. Bakaeva, O. A. Gorustovich, I. V. Bizin, E. N. Imyanitov

Erschienen in: Familial Cancer | Ausgabe 1/2023

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Abstract

The spectrum of BRCA1/2 mutations demonstrates significant interethnic variations. We analyzed for the first time the entire BRCA1/2 coding region in 340 Belarusian cancer patients with clinical signs of BRCA1/2-related disease, including 168 women with bilateral and/or early-onset breast cancer (BC), 104 patients with ovarian cancer and 68 subjects with multiple primary malignancies involving BC and/or OC. BRCA1/2 pathogenic alleles were detected in 98 (29%) women, with 67 (68%) of these being represented by founder alleles. Systematic comparison with other relevant studies revealed that the founder effect observed in Belarus is among the highest estimates observed worldwide. These findings are surprising, given that the population of Belarus did not experience geographic or cultural isolation throughout history.

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Titel: Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations
verfasst von: G. A. Yanus
E. L. Savonevich
A. P. Sokolenko
A. A. Romanko
V. I. Ni
E. Kh. Bakaeva
O. A. Gorustovich
I. V. Bizin
E. N. Imyanitov
Publikationsdatum: 21.05.2022
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2023
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-022-00296-y

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Eine ICI-Therapie sollte bei Betroffenen mit fortgeschrittenem Melanom mindestens ein Jahr fortgesetzt werden. Bei anhaltendem Ansprechen kann danach offenbar ohne hohes Risiko ein Therapieabbruch erwogen werden.

Positive Phase IIb-Studie zu spezifischer CAR-T-Zell-Therapie bei Myasthenia gravis

17.04.2025
AAN-Jahrestagung 2025
Kongressbericht

Eine auf das B-Zell-Reifungsantigen gerichtete mRNA-basierte CAR-T-Zell-Therapie wurde jetzt in einer ersten Phase IIb-Studie zur Behandlung der generalisierten Myasthenia gravis mit Placebo verglichen.

NSCLC: Hirnmetastasen durch elektrische Felder eindämmen

17.04.2025
DGP 2025
Kongressbericht

Zur Behandlung von Hirnmetasen bei nicht-kleinzelligem Lungenkrebs (NSCLC) stehen verschiedene Optionen zur Verfügung. TTFields – eine lokoregionäre, nicht-invasive physikalische Therapie – könnte sich hier einreihen.

Update Onkologie

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Springer Medizin

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations

Abstract

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Fortgeschrittenes Melanom: Wann den Checkpoint-Inhibitor absetzen?

Positive Phase IIb-Studie zu spezifischer CAR-T-Zell-Therapie bei Myasthenia gravis

NSCLC: Hirnmetastasen durch elektrische Felder eindämmen

Update Onkologie

Springer Medizin

Abstract

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