Detalhe da pesquisa
1.
Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
Int J Gynecol Cancer
; 33(2): 257-262, 2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581488
2.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
Clin Chem Lab Med
; 59(3): e95-e98, 2021 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32396136
3.
The growing complexity of the intestinal polyposis syndromes.
Am J Med Genet A
; 161A(11): 2777-87, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124059
4.
Lynch Syndrome and Gynecologic Tumors: Incidence, Prophylaxis, and Management of Patients with Cancer.
Cancers (Basel)
; 15(5)2023 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900193
5.
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?
Am J Med Genet A
; 158A(11): 2750-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987613
6.
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
Eur J Med Genet
; 65(1): 104400, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34813939
7.
Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.
J Clin Med
; 11(10)2022 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628811
8.
Fertility-sparing treatment for endometrial cancer and atypical endometrial hyperplasia in patients with Lynch Syndrome: Molecular diagnosis after immunohistochemistry of MMR proteins.
Front Med (Lausanne)
; 9: 948509, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36091691
9.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Eur J Hum Genet
; 29(2): 250-261, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929237
10.
Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Dig Liver Dis
; 53(4): 409-417, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504457
11.
Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature review and current state of the art.
Minerva Surg
; 76(6): 564-574, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338470
12.
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy.
PLoS One
; 15(7): e0235038, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609729
13.
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients.
Tumori
; 95(6): 731-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20210238
14.
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
Fam Cancer
; 18(4): 421-427, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292797
15.
Orbital Desmoid-Type Fibromatosis: A Case Report and Literature Review.
Case Rep Oncol Med
; 2018: 1684763, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707396
16.
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.
EBioMedicine
; 20: 39-49, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28551381
17.
Universal testing for MSI/MMR status in colorectal and endometrial cancers to identify Lynch syndrome cases: state of the art in Italy and consensus recommendations from the Italian Association for the Study of Familial Gastrointestinal Tumors (A.I.F.E.G.).
Eur J Cancer Prev
; 31(1): 44-49, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767077
18.
The spectrum of WRN mutations in Werner syndrome patients.
Hum Mutat
; 27(6): 558-67, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16673358
19.
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
J Invest Dermatol
; 126(10): 2302-7, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16826164
20.
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Eur J Hum Genet
; 29(2): 362, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32968214