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1.
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.
Article
in English
| MEDLINE | ID: mdl-31131967
2.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26130695
3.
Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.
Int J Gynecol Cancer
; 27(7): 1543-1549, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28471861
4.
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
BMC Med Genet
; 17: 11, 2016 Feb 06.
Article
in English
| MEDLINE | ID: mdl-26852130
5.
Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.
Carcinogenesis
; 36(4): 452-8, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25742745
6.
MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
Genes (Basel)
; 14(11)2023 Nov 09.
Article
in English
| MEDLINE | ID: mdl-38003003
7.
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
J Natl Cancer Inst
; 114(1): 109-122, 2022 01 11.
Article
in English
| MEDLINE | ID: mdl-34320204
8.
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.
Cancer Genet
; 254-255: 1-10, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33516942
9.
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Mol Genet Genomic Med
; 9(12): e1831, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34704405
10.
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.
Mol Genet Genomic Med
; 7(5): e587, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30916491
11.
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.
Article
in English
| MEDLINE | ID: mdl-33767077
12.
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
J Clin Oncol
; 35(20): 2240-2250, 2017 Jul 10.
Article
in English
| MEDLINE | ID: mdl-28448241
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