List of works - Emanuela Lucci Cordisco

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

article

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

scientific article published in February 2005

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

scientific article

BRCA1-Related Malignancies in a Family Presenting with von Recklinghausen's Disease

scientific article published on 01 September 2002

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

scientific article published on 15 February 2013

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

scientific article published in November 2002

Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

scientific article published on 10 May 2022

Double pituitary adenomas

scientific article published on 17 January 2013

Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population

scientific article published in June 2001

Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC

scientific article published on 01 September 2007

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

scientific article published on February 2004

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

article

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients

scientific article published on 10 April 2012

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints

scientific article

Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas

scientific article published on 01 March 2005

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

scientific article published on 01 October 2019

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events ⬇️

scientific article

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia

scientific article

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics

scientific article published on 5 September 2013

Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients

scientific article published on 01 November 2009

Silent beginning: Early silencing of the MED1/MBD4 gene in colorectal tumorigenesis

article

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

scientific article

The growing complexity of the intestinal polyposis syndromes.

scientific article

The spectrum of WRN mutations in Werner syndrome patients

scientific article

Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?

scientific article published on 17 September 2012

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

scientific article published in August 2005

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas

scientific article

List of works by Emanuela Lucci Cordisco

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

BRCA1-Related Malignancies in a Family Presenting with von Recklinghausen's Disease

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Double pituitary adenomas

Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population

Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints

Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events ⬇️

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics

Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients

Silent beginning: Early silencing of the MED1/MBD4 gene in colorectal tumorigenesis

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

The growing complexity of the intestinal polyposis syndromes.

The spectrum of WRN mutations in Werner syndrome patients

Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas