Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38351721
2.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35979650
3.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761208
4.
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Int J Cancer
; 146(4): 999-1009, 2020 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31081934
5.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29750258
6.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31131967
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31036035
8.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28490613
9.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29460995
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29368626
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008870
12.
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
Breast Cancer Res Treat
; 172(2): 497-503, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30105462
13.
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Breast Cancer Res Treat
; 172(3): 561-569, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30191368
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29514593
15.
The association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies.
Carcinogenesis
; 38(3): 312-320, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28426874
16.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27060066
17.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
; 53(7): 465-71, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26928436
18.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-31863589
19.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24569164
20.
DNA methylation array analyses identified breast cancer-associated HYAL2 methylation in peripheral blood.
Int J Cancer
; 136(8): 1845-55, 2015 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25213452