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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38554551
2.
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
3.
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Breast;
73: 103615, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38061307
4.
Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.
Cancer Med;
12(14): 15256-15260, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37345881
5.
Long-term survival of a BRCA2 mutation carrier following second ovarian cancer relapse using PARPi therapy: A case report.
Mol Clin Oncol;
17(3): 137, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35949895
6.
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
7.
Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
Cancers (Basel);
13(1)2021 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33401422
8.
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
9.
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
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.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Eur J Cancer Prev;
26(2): 165-169, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27622768
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