In:
International Journal of Cancer, Wiley, Vol. 148, No. 2 ( 2021-01-15), p. 285-295
Kurzfassung:
What's new? Inherited cancer‐predisposing genetic variants vary in identity and frequency across populations, potentially impacting genetic testing for risk assessment and treatment. This study examined the spectrum and prevalence of pathogenic variants specifically among Turkish breast and colorectal cancer patients. A total of 25 cancer susceptibility genes were analyzed. Overall, pathogenic variants were mostly non‐recurrent or recurrent at low frequencies in the study population. The most notable exception, occurring at greater frequency, was deletion of exons 17‐18 in BRCA1 , a potential founder variant that originated in northeastern Turkey. The findings could inform region‐specific strategies for genetic screening in cancer prevention.
Materialart:
Online-Ressource
ISSN:
0020-7136
,
1097-0215
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2021
ZDB Id:
218257-9
ZDB Id:
1474822-8
