Detalhe da pesquisa
1.
Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.
J Genet Couns
; 33(1): 206-215, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351721
2.
AGO-OVAR 28/ENGOT-ov57. Niraparib alone versus niraparib in combination with bevacizumab in patients with carboplatin-taxane-based chemotherapy in advanced ovarian cancer: a multicenter randomized phase III trial.
Int J Gynecol Cancer
; 33(12): 1966-1969, 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935524
3.
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
J Med Genet
; 59(3): 248-252, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273034
4.
Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial.
Int J Cancer
; 151(8): 1394-1404, 2022 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583992
5.
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
J Med Genet
; 56(9): 574-580, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30979843
6.
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Breast Cancer Res
; 21(1): 55, 2019 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036035
7.
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
Hum Mutat
; 39(12): 2040-2046, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30216591
8.
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Hum Mutat
; 39(3): 394-405, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215764
9.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
; 20(1): 7, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368626
10.
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
11.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837162
12.
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
BMC Cancer
; 18(1): 265, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514593
13.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Pediatr Nephrol
; 32(5): 791-800, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28083701
14.
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
15.
Manual vs. computer-assisted sperm analysis: can CASA replace manual assessment of human semen in clinical practice?
Ginekol Pol
; 88(2): 56-60, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28326513
16.
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
Int J Cancer
; 144(7): 1761-1763, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474284
17.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast
; 75: 103721, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554551
18.
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Breast Cancer Res
; 15(6): R120, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24359560
19.
Deep sequencing reveals increased DNA methylation in chronic rat epilepsy.
Acta Neuropathol
; 126(5): 741-56, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24005891
20.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449874