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List of works by Siranoush Manoukian

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature

scientific article published on 19 September 2018

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A BRCA1 promoter variant (rs11655505) and breast cancer risk

scientific article published in April 2010

A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6

scientific article

A Dietary Intervention to Lower Serum Levels of IGF-I in Mutation Carriers

scientific article published on 04 September 2018

A Mediterranean Dietary Intervention in Female Carriers of BRCA Mutations: Results from an Italian Prospective Randomized Controlled Trial

scientific article published on 11 December 2020

A comparison of bilateral breast cancers in BRCA carriers

scientific article published in June 2005

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

scientific 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 network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

scientific article published on 26 December 2017

A randomized controlled trial of diet and physical activity in BRCA mutation carriers

scientific article published on 01 June 2014

A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project

scientific article

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

scientific article

Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study

scientific article published in April 2007

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

An unusual BRCA2 allele carrying two splice site mutations

scientific article published on 07 May 2009

Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer

scientific article published on 08 April 2020

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

scientific article published on 17 October 2008

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

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 genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.

scientific article published on 7 March 2013

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

scientific article

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

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

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers

scientific article published in January 2004

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

scientific article

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

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

scientific article published on 30 November 2020

BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

scientific article published in January 2008

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Bilateral preaxial polydactyly in a WAGR syndrome patient.

scientific article published in May 2005

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Breast MRI screening in patients with increased familial and/or genetic risk for breast cancer: a preliminary experience

scientific article published on 01 March 2003

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

scientific article published in July 2005

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

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Cardio-Oncology: The Carney Complex Type I.

scientific article published in October 2016

Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation

scientific article published on 01 May 1996

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

scientific article

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Classification of BRCA1 missense variants of unknown clinical significance

scientific article

Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy

article

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature

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 variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

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

scientific article

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

scientific article published on 20 October 2015

Constitutive Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

scientific article published on 09 January 2019

Contribution of Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

article

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Cutaneous Melanoma in Childhood and Adolescence Shows Frequent Loss of INK4A and Gain of KIT

article

Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

scientific article published on 7 March 2008

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article

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

article

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.

scientific article published in March 2015

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

scientific article published on 01 August 2019

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

scientific article

Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases

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 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 variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases

scientific article published on 16 March 2008

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

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

scientific article

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

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

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

scientific article

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

scientific article published on 7 April 2010

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

article

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

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

scientific article

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

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)

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

scientific article published on 16 January 2007

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2

scientific article published on 13 September 2016

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers

scientific article published on 23 September 2008

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

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

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

scientific article

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

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

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

Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature

scientific article published on October 2006

Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations

scientific article

Indications for breast magnetic resonance imaging. Consensus document "Attualità in senologia", Florence 2007.

scientific article published on 16 October 2008

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

scientific article published on 24 August 2017

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

scientific article published on 29 May 2008

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

scientific article published on 24 January 2019

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

scientific article published on 19 April 2020

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

scientific article

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

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

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

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

Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results

scientific article published on 23 January 2007

Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results

scientific article published in February 2011

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

scientific article published in February 2016

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

scientific article

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

scientific article published on 15 February 2018

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

scientific article published on 4 February 2006

New Trends of MRI in Breast Cancer Diagnosis

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women

scientific article published on 17 December 2010

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy

scientific article published on 3 August 2015

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

scientific article

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

scientific article published on 24 December 2010

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

article

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

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

scientific article published on 03 September 2020

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

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group

scientific article

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia

scientific article published in December 1993

Rapid progression of prostate cancer in men with a BRCA2 mutation

scientific article published on 24 June 2008

Rare germline copy number variants (CNVs) and breast cancer risk

scientific article published on 18 January 2022

Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012

Re: Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.

scientific article published on 13 May 2008

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

scientific article

Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?

scientific article published on 11 July 2019

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 6 January 2009

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

scientific article

Serum levels of IGF-I and BRCA penetrance: a case control study in breast cancer families

scientific article published on 01 September 2011

Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility

scientific article

Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition

scientific article published on 29 December 2017

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

scientific article published on 18 March 2008

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

scientific article

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

scientific article published on 22 July 2010

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 SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians

article

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 25 August 2009

The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

scientific article published on 18 October 2013

The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study

scientific article published on 17 March 2016

The neutrophil-to-lymphocyte and platelet-to-lymphocyte ratios predict efficacy of platinum-based chemotherapy in patients with metastatic triple negative breast cancer.

scientific article

The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases

scientific article published on 21 July 2008

The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

scientific article

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

article

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

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

scientific article published on 01 March 2020

Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study

scientific article

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations

scientific article published on 12 May 2011

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

scientific article published on 01 March 2019

What is specific in hereditary breast cancer? High T2 signal intensity as a new semeiotic pattern?

scientific article published in September 2012

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

scientific article

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

scientific article published on 20 September 2016

X chromosome inactivation pattern in BRCA gene mutation carriers

scientific article published on 9 November 2012

miR-342 regulates BRCA1 expression through modulation of ID4 in breast cancer

scientific article published on 27 January 2014

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