Detalhe da pesquisa
1.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer
; 19(1): 787, 2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395037
2.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
3.
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.
BMC Med Genet
; 19(1): 144, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111295
4.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
; 53(7): 465-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928436
5.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Breast Cancer Res Treat
; 152(1): 129-136, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022348
6.
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Mol Genet Genomic Med
; 11(6): e2151, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36760167
7.
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
Cell Death Dis
; 14(5): 328, 2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198153
8.
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Eur J Cancer
; 179: 48-55, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495689
9.
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Eur J Hum Genet
; 31(10): 1139-1146, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507557
10.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093
11.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
J Clin Oncol
; 40(14): 1529-1541, 2022 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077220
12.
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
Mol Genet Genomic Med
; 9(12): e1807, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491624
13.
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.
J Natl Cancer Inst
; 113(7): 893-899, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372680
14.
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Geburtshilfe Frauenheilkd
; 80(4): 410-429, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32322110
15.
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Front Neurol
; 10: 1332, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920950
16.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Med
; 7(4): 1349-1358, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29522266