| Autor: |
Noskowicz M; Department of Obstetrics and Gynaecology, Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Bogdanova N, Bermisheva M, Takhirova Z, Antonenkova N, Khusnutdinova E, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Dörk T |
| Jazyk: |
angličtina |
| Zdroj: |
Familial cancer [Fam Cancer] 2014 Jun; Vol. 13 (2), pp. 137-42. |
| DOI: |
10.1007/s10689-013-9684-1 |
| Abstrakt: |
Inherited mutations in PALB2 are known to be associated with increased breast cancer risk. We aimed to investigate the prevalence and risk association of a recurrent PALB2 mutation, c.509_510delGA, among 3,924 unselected breast cancer patients from Belarus, Russia or Germany. High-resolution melting analyses and direct sequencing identified the c.509_510delGA allele in 3/1,008 (0.3 %) German breast cancer patients, 2/994 (0.2 %) Russian breast cancer patients and 5/1,922 (0.3 %) Byelorussian breast cancer patients. Breast tumours were mainly estrogen receptor positive and included both ductal and lobular histology. Only one of the ten patients had a first-degree family history of breast cancer. The mutation was not detected in 2,827 healthy females from the same populations, confirming the association of PALB2*c.509_510delGA with breast cancer risk (p = 0.007). These data indicate that the PALB2*c.509_510delGA mutation is prevalent in about 1 in 400 breast cancer patients from Central and Eastern Europe, and the low occurrence of familial clustering is consistent with a moderate penetrance of this mutation. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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