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A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 12, p. 846, doi. 10.1002/gcc.22488
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- Article
Cloning and characterization of a senescence inducing and class II tumor suppressor gene in ovarian carcinoma at chromosome region 6q27.
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- Oncogene, 2001, v. 20, n. 8, p. 980, doi. 10.1038/sj.onc.1204178
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- Article
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
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- International Journal of Cancer, 2004, v. 109, n. 5, p. 680, doi. 10.1002/ijc.20054
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- Article
Referral of Ovarian Cancer Patients for Genetic Counselling by Oncologists: Need for Improvement.
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- Public Health Genomics, 2015, v. 18, n. 4, p. 225, doi. 10.1159/000431352
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- Article
Leucocytes telomere length and breast cancer risk/ susceptibility: A case-control study.
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- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197522
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- Article
Experience with a nurse‐driven genetic counseling pathway of Italian women with uninformative BRCA test result.
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- Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 140, doi. 10.1002/jgc4.1630
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- Article
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.
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- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 665, doi. 10.1002/jgc4.1350
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- Article
Letter to the Editor: Response to Cox (2018).
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
A Psychological Perspective on Factors Predicting Prophylactic Salpingo-Oophorectomy in a Sample of Italian Women from the General Population. Results from a Hypothetical Study in the Context of BRCA Mutations.
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- Journal of Genetic Counseling, 2017, v. 26, n. 5, p. 1144, doi. 10.1007/s10897-017-0093-8
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- Publication type:
- Article
Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.
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- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3843, doi. 10.1093/hmg/ddu097
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- Article
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
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- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3304
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- Publication type:
- Article
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 280, doi. 10.1038/ejhg.2013.193
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- Article
Novel germline APC variants in patients with multiple adenomas.
- Published in:
- Genes, Chromosomes & Cancer, 1998, v. 22, n. 4, p. 257, doi. 10.1002/(SICI)1098-2264(199808)22:4<257::AID-GCC1>3.0.CO;2-U
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- Publication type:
- Article
Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration.
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- Genes, Chromosomes & Cancer, 1998, v. 22, n. 4, p. 278, doi. 10.1002/(SICI)1098-2264(199808)22:4<278::AID-GCC3>3.0.CO;2-S
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- Publication type:
- Article
Fine Mapping of Probes in the Adenomatous Polyposis Coli Region of Chromosome 5 by In Situ Hybridization.
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- Genes, Chromosomes & Cancer, 1991, v. 3, n. 5, p. 382, doi. 10.1002/gcc.2870030509
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- Publication type:
- Article
Increased Risk of Colorectal Adenomas in Italian Subjects Carrying the p53 PIN3 A2-Pro72 Haplotype.
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- Digestion, 2006, v. 74, n. 3/4, p. 228, doi. 10.1159/000100966
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- Article
A qualitative study on decision‐making about BRCA1/2 testing in Italian women.
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- European Journal of Cancer Care, 2019, v. 28, n. 5, p. N.PAG, doi. 10.1111/ecc.13083
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- Article
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
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- Familial Cancer, 2024, v. 23, n. 2, p. 197, doi. 10.1007/s10689-023-00349-w
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- Article
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening.
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- Familial Cancer, 2022, v. 21, n. 3, p. 309, doi. 10.1007/s10689-021-00281-x
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- Article
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.
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- Familial Cancer, 2015, v. 14, n. 1, p. 41, doi. 10.1007/s10689-014-9750-3
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- Publication type:
- Article
Clinical Application of Micronucleus Test: A Case-Control Study on the Prediction of Breast Cancer Risk/Susceptibility.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112354
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- Publication type:
- Article
Comparative <i>In Vitro</i> and <i>In Silico</i> Analyses of Variants in Splicing Regions of <i>BRCA1</i> and <i>BRCA2</i> Genes and Characterization of Novel Pathogenic Mutations.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057173
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- Publication type:
- Article
Clustered protocadherins methylation alterations in cancer.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0695-0
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- Article
Population Genomic Screening for Three Common Hereditary Conditions.
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- Annals of Internal Medicine, 2023, v. 176, n. 11, p. 1, doi. 10.7326/L23-0321
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- Article
310 basepair APC deletion with duplication of breakpoint (4394ins 15del310) in an Italian polyposis patient.
- Published in:
- Human Mutation, 1998, v. 11, p. S220, doi. 10.1002/humu.1380110171
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- Article
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
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- Human Mutation, 1997, v. 9, n. 4, p. 370, doi. 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#
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- Publication type:
- Article
BRAF Mutations in Multiple Sebaceous Hyperplasias of Patients Belonging to MYH-Associated Polyposis Pedigrees.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 6, p. 1387, doi. 10.1038/sj.jid.5700723
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- Publication type:
- Article
Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy.
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- Breast Cancer Research & Treatment, 2012, v. 134, n. 1, p. 411, doi. 10.1007/s10549-012-2062-0
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- Article
PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.
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- 2011
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- Publication type:
- Letter
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 125, n. 3, p. 855, doi. 10.1007/s10549-010-1068-8
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- Publication type:
- Article
The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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- Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411
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- Publication type:
- Article
Analisi di minimizzazione dei costi di una strategia di test preventivo per le familiari di pazienti con carcinoma dell'ovaio BRCA mutato.
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- Global & Regional Health Technology Assessment, 2020, v. 7, n. 1, p. 1, doi. 10.33393/grhta.2020.557
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- Article
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire.
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- Frontiers in Psychology, 2021, v. 12, p. 1, doi. 10.3389/fpsyg.2021.697300
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- Article
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
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- International Journal of Cancer, 2019, v. 145, n. 2, p. 390, doi. 10.1002/ijc.32106
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- Publication type:
- Article
Colorectal cancer early methylation alterations affect the crosstalk between cell and surrounding environment, tracing a biomarker signature specific for this tumor.
- Published in:
- International Journal of Cancer, 2018, v. 143, n. 4, p. 907, doi. 10.1002/ijc.31380
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- Publication type:
- Article