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List of works by Maria Adelaide Caligo

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A low NM23.H1 gene expression identifying high malignancy human melanomas

scientific article published on June 1994

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function

scientific article published on July 2008

A recombination-based method to characterize human BRCA1 missense variants

scientific article published on 25 August 2010

A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres

scientific article

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance

scientific article published in January 2009

Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis.

scientific article

Accumulation of anchorage independent cells showing amplified genes (CAD) during the in vitro propagation of CHEF18 Chinese hamster cells.

scientific article published on March 1993

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy

scientific article published on 3 September 2007

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of SULT1A1 Arg²¹³His polymorphism with male breast cancer risk: results from a multicenter study in Italy.

scientific article published on 11 November 2014

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants

scientific article published on 13 March 2012

BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review

scientific article published on 18 June 2015

BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations

scientific article published on 01 October 1996

Breast MR imaging screening in eight women proved or suspected to be carriers of BRCA1&2 gene mutations

scientific article published on 01 September 2002

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma

scientific article

Carcinosarcoma of the Breast: An Aggressive Subtype of Metaplastic Cancer. Report of a Rare Case in a Young BRCA-1 Mutated Woman

scientific article

Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants

scientific article published on 01 June 2009

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations

scientific article

Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation

scientific article published on 15 January 2008

Clinicopathological significance of GADD45 gene alterations in human familial breast carcinoma

scientific article published on 01 September 2004

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Current Policies for Surveillance and Management in Women at Risk for Breast and Ovarian Cancer: A Survey among 16 European Family Cancer Clinics

Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group

scientific article published in November 1998

Cyclin D1 overexpression in thyroid carcinomas: relation with clinico-pathological parameters, retinoblastoma gene product, and Ki67 labeling index

article

Decreasing expression of NM23 gene in metastatic murine mammary tumors of viral etiology (MMTV)

scientific article published on May 1, 1992

Defective interleukin six expression and responsiveness in human mammary cells transformed by an adeno 5/SV40 hybrid virus.

scientific article

Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

article

Down regulation of NM23.H1, NM23.H2 and c-myc genes during differentiation induced by 1,25 dihydroxyvitamin D3

scientific article published on 01 February 1996

Down-regulation of thenm23.h1 gene inhibits cell proliferation ⬇️

scientific article published on October 9, 1997

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae

scientific article published on 16 January 2013

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells

scientific article published on 14 June 2011

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study

scientific article

Ethical, social and economic issues in familial breast cancer: a compilation of views from the E.C. Biomed II Demonstration Project

scientific article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

scientific article

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

scientific article published in April 2004

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Expression of human poly (ADP-ribose) polymerase 1 in Saccharomyces cerevisiae: Effect on survival, homologous recombination and identification of genes involved in intracellular localization.

scientific article published on 6 March 2015

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Feline immunodeficiency virus vector as a tool for preventative strategies against human breast cancer.

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Functional Interaction Between and DNA Repair in Yeast May Uncover a Role of , and Somatic Variants in Cancer Development

scholarly article by Luisa Maresca et al published 2018 in Frontiers in Genetics

Genetic alterations in hereditary breast cancer

scientific article published on 01 January 2004

Genetic instability, p53 and nm23 mutation and clinicopathological features in rectal carcinoma

scientific article published on March 1, 1998

Genetic testing for breast cancer predisposition in 1999: which molecular strategy and which family criteria?

scientific article published on October 1999

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing

scientific article published on 11 September 2019

Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients

scientific article published on 21 June 2016

Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations

scientific article published on 01 March 2002

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

scientific article

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

scientific article published in September 2004

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

scientific article

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

scientific article published in February 1996

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis.

scientific article published in March 2007

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of BRAF 3'UTR Isoforms in Melanoma.

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of novel alternatively spliced BRCA1-associated RING domain (BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissues

scientific article published on 01 September 2007

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway

scientific article published on 9 October 2013

Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe

scientific article published on October 1999

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Lactoferrin expression in human breast cancer

scientific article published on 01 July 1999

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

Loss of heterozygosity at 7q31 in breast cancer: results from an International Collaborative Study Group. The Breast Cancer Somatic Genetics Consortium

scientific article published in March 1997

MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers

scientific article published on 14 September 2015

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers

scientific article published on 7 December 2006

Microsatellite alterations and K-ras, TGFbetaRII, IGFRII and bax mutations in sporadic cancers of the gastrointestinal tract.

scientific article

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours

scientific article published on April 1999

Microsatellite instability is co-selectable with gene amplification in a mammalian mutator phenotype

scientific article published on March 1999

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del

scientific article published on 25 August 2009

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Mutational analysis of the NM23.H1 gene in human breast cancer

scientific article published on 01 September 2000

Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup.

scientific article published on 25 March 2017

NM23 gene expression correlates with cell growth rate and S-phase

scientific article published on March 1995

NM23 gene expression in human breast carcinomas: loss of correlation with cell proliferation in the advanced phase of tumor progression

scientific article published on 01 February 1997

NM23.H1 loss of heterozygosity in human mammary carcinomas. Definition of a deletion map on chromosome 17q

scientific article published on 01 November 1993

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Origin of araC-induced endoreduplicated cells

scientific article published on 01 April 1987

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

PALB2: a novel inactivating mutation in a Italian breast cancer family.

scientific article published in December 2010

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations

scientific article published on 01 November 2004

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

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

scientific article published in October 2006

Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis

scientific article published on 23 January 2008

Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer

scientific article published on October 1999

Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test

scientific article published on 01 September 1996

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Stimulation of carrot somatic embryogenesis by proline and serine

scientific article published on 01 October 1984

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.

scientific article

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk

article

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

The NM23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with BglII.

scientific article

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

scientific article published on 8 March 2011

Time course of sister chromatid exchanges and gene amplification induced by 1-beta-D-arabinofuranosylcytosine in V79-AP4 Chinese hamster cells

scientific article

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling

scientific article published on 29 January 2009

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

scientific article

p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations.

scientific article published in November 2003

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