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1.
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
2.
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
3.
The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.
Cancer
; 125(4): 586-600, 2019 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30561760
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31395037
5.
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
6.
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
7.
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Int J Cancer
; 143(6): 1416-1425, 2018 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29659014
8.
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
9.
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
10.
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
Hum Mol Genet
; 21(21): 4669-79, 2012 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22843497
11.
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancers (Basel)
; 14(13)2022 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35805063
12.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers (Basel)
; 14(14)2022 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35884425
13.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
J Clin Oncol
; 40(14): 1529-1541, 2022 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35077220
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33372680
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32322110
16.
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.
J Clin Endocrinol Metab
; 103(12): 4511-4523, 2018 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30113656
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29522266
18.
Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.
Invest Ophthalmol Vis Sci
; 48(2): 891-900, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17251492
19.
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Neuromuscul Disord
; 27(7): 631-634, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28495050
20.
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
JAMA Oncol
; 3(9): 1245-1248, 2017 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28033443