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Significats de germline mutation en anglès
Inherited genetic variation.
Ús de germline mutation en anglès
1
Four cases showed a CTNNB1 mutation and one an APC germline mutation.
2
Testing for MEN1 germline mutation is possible in a research setting.
3
The confirmation of a germline mutation always requires a comparison with healthy tissue.
4
The secondary aim was to see association of germline mutation in histopathologically proven patients.
5
Heterozygous carriers of an ATM germline mutation have an increased susceptibility for breast cancer.
6
These data implicate this PARK2 germline mutation as a genetic susceptibility factor for lung cancer.
7
Conclusion: Preoperative knowledge of the germline mutation status affects the surgical approach and extent of adrenalectomy.
8
We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status.
9
Various clinical manifestations are presented by description of three patients harbouring a MEN1 gene germline mutation.
10
In one of them the most common biallelic germline mutation in the MYH gene was detected.
11
Molecular studies showed a silent germline mutation in exon 9 of the KIT gene of both tumours.
12
Nevertheless, the risk of primary osteosarcoma developing without prior Rb has not been reported in RB1 germline mutation carriers.
13
The present study describes the first AR germline mutation in an African-American family with a history of familial PCa.
14
Mutations at expanded simple tandem repeat (ESTR) DNA sequences provide a useful tool for screening germline mutation.
15
These tumours are often multicentric or bilateral, and manifest at a younger age than in situations without a VHL germline mutation.
16
Direct sequencing of variants revealed only one germline mutation in MLH1 and a single somatic mutation in MSH2.