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1.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37076566
2.
A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient.
Int J Mol Sci
; 24(15)2023 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37569793
3.
Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
Int J Mol Sci
; 23(24)2022 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36555431
4.
Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
BMC Cancer
; 21(1): 611, 2021 May 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34034685
5.
Identification of a novel large EPCAM-MSH2 duplication, concurrently with LOHs in chromosome 20 and X, in a family with Lynch syndrome.
Int J Colorectal Dis
; 34(11): 1999-2002, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31655866
6.
First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
BMC Cancer
; 14: 478, 2014 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24986639
7.
Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area.
Cancers (Basel)
; 15(7)2023 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37046793
8.
Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
Front Oncol
; 12: 835346, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35237525
9.
Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer.
Pharmaceuticals (Basel)
; 14(5)2021 May 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34066170
10.
Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
Diagnostics (Basel)
; 10(5)2020 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32365798
11.
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
Cancers (Basel)
; 12(4)2020 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-32325837
12.
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Cancers (Basel)
; 11(9)2019 Sep 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31514334
13.
Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.
Breast Cancer Res Treat
; 112(2): 343-9, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18092194
14.
Disease family history and modification of breast cancer risk in common BRCA2 variants.
Oncol Rep
; 19(3): 783-6, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18288416
15.
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
Oncotarget
; 8(29): 47064-47075, 2017 Jul 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-28423363
16.
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
Oncotarget
; 8(14): 22640-22648, 2017 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28186987
17.
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.
Int J Biol Markers
; 31(4): e461-e465, 2016 Dec 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-27516001
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