S. Manoukian

P. Radice, S. Manoukian, V. Pensotti, 2004, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

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

A. Paradiso, S. Manoukian, P. Pasanisi, 2020, Cancers.

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

S. Manoukian, P. Pasanisi, E. Bruno, 2018, Cancers.

Bilateral preaxial polydactyly in a WAGR syndrome patient

J. Crolla, P. Radice, S. Manoukian, 2005, American journal of medical genetics. Part A.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

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

W. Chung, R. Nussbaum, F. Couch, 2016, Breast Cancer Research and Treatment.

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

D. Altshuler, P. Fasching, P. Hall, 2013, PLoS genetics.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

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).

W. Chung, F. Couch, B. Bonanni, 2020, JAMA oncology.

The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type

P. Radice, S. Manoukian, P. Pasanisi, 2022, Frontiers in Genetics.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

S. Cross, M. Beckmann, P. Fasching, 2021, British Journal of Cancer.

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

P. Radice, P. Peterlongo, S. Manoukian, 2018, Front. Oncol..

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

M. Daly, D. Altshuler, F. Couch, 2010, PLoS Genetics.

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

B. Bonanni, P. Radice, P. Peterlongo, 2019, International journal of cancer.

Clinical genetic testing for familial melanoma in Italy: a cooperative study.

P. Ascierto, S. Manoukian, M. Pizzichetta, 2009, Journal of the American Academy of Dermatology.

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

B. Bonanni, P. Radice, P. Peterlongo, 2019, Endocrine Connections.

Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

Gianluca, B. Bonanni, P. Radice, 2019, Endocrine connections.

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

P. Radice, P. Peterlongo, S. Manoukian, 2014, Breast Cancer Research and Treatment.

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

Patrick Neven, Hui Zhao, Nazneen Rahman, 2012, PloS one.

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

Daniel J. Park, S. Cross, M. Beckmann, 2012, PLoS ONE.

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

P. Radice, S. Manoukian, B. Pasini, 2006, The American journal of surgical pathology.

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome

S. Manoukian, J. D. den Dunnen, L. Dalprà, 1996, Human Genetics.

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

Wei Lu, Wei Zheng, Mads Thomassen, 2013, Nature Genetics.

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

Nussbaum, S. Cross, P. Fasching, 2016 .

Ophira M. GinsburgCharmaine Kim-SingWilliam D. Foulkes • Parviz GhadirianHenry T. LynchPing SunSteven A. Narod • Hereditary Breast Cancer Clinical Study Group

F. Couch, O. Olopade, B. Karlan, 2010 .

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

B. Bonanni, P. Radice, P. Peterlongo, 2018, Front. Oncol..

Genome-wide association study of germline variants and breast cancer-speci ﬁ c mortality

A. Whittemore, M. Beckmann, A. Talhouk, 2019 .

Genetic Testing and Clinical Management Practices for Variants inNon-BRCA1/2 Breast (and Breast/Ovarian)Cancer Susceptibility Genes: An International Survey by the Evidence-BasedNetwork for the Interpretation of Germline Mutant Alleles (ENIGMA) ClinicalWorking Group

O. Olopade, C. Lázaro, S. Manoukian, 2019 .

Male breast cancer in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, F. Couch, 2018 .

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

S. Manoukian, F. D. De Braud, G. Mariani, 2018, Scientific Reports.

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

P. Radice, S. Manoukian, M. Carcangiu, 2017, Cancer genetics.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2021, The New England journal of medicine.

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

B. Bonanni, P. Radice, P. Peterlongo, 2017, Cancer.

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

Patrick Neven, Michael Jones, Michael Bremer, 2012, Human mutation.

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

P. Radice, P. Peterlongo, S. Manoukian, 2009, Breast Cancer Research and Treatment.

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

M. Gariboldi, P. Radice, S. Manoukian, 2008, Journal of the National Cancer Institute.

Title Interplay between BRCA 1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Loris, Fiona, Meindl, 2012 .

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

Nicholas A. Sinnott-Armstrong, Richard C. Sallari, S. Cross, 2016, Nature Genetics.

Cardio-Oncology: The Carney Complex Type I.

E. Arbustini, S. Manoukian, J. Bertherat, 2016, Journal of the American College of Cardiology.

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

B. Bonanni, S. Manoukian, F. Podo, 2015, Clinical Cancer Research.

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

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.

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

S. Manoukian, B. Valeri, C. Ferranti, 2012, European journal of radiology.

Breast MRI Screening in Patients with Increased Familial and/or Genetic Risk for Breast Cancer: A Preliminary Experience

S. Manoukian, F. Podo, B. Pasini, 2003, Tumori.

Malignant melanoma and Charcot-Marie-Tooth disease: a further case.

S. Manoukian, F. Lalatta, V. Briscioli, 1997, American journal of medical genetics.

Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

S. Cross, M. Beckmann, P. Fasching, 2011, Cancer Epidemiology, Biomarkers & Prevention.

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

A. Cilotti, L. Martincich, S. Corcione, 2008, La radiologia medica.

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

F. Berrino, P. Radice, S. Manoukian, 2015, Familial Cancer.

An unusual BRCA2 allele carrying two splice site mutations.

P. Radice, S. Manoukian, V. Pensotti, 2009, Annals of oncology : official journal of the European Society for Medical Oncology.

A BRCA1 promoter variant (rs11655505) and breast cancer risk

J. Hopper, A. Spurdle, M. Southey, 2010, Journal of Medical Genetics.

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

H A Risch, J. Hopper, M. Southey, 2008, British Journal of Cancer.

Fertility Counseling in Survivors of Cancer in Childhood and Adolescence: Time for a Reappraisal?

S. Manoukian, M. Massimino, F. Peccatori, 2021, Cancers.

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

Daniel J. Park, Julian Peto, Kamila Czene, 2012, Cancer research.

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

Victoria L. Cafourek, S. Cross, M. Beckmann, 2011, Journal of the National Cancer Institute.

Breast-cancer risk in families with mutations in PALB2.

Nazneen Rahman, Katri Pylkäs, Arto Mannermaa, 2014, The New England journal of medicine.

Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT.

S. Manoukian, S. Pilotti, A. Ferrari, 2009, The Journal of investigative dermatology.

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

S. Manoukian, A. Testori, M. Genuardi, 2008, Melanoma research.

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

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Päivi Heikkilä, Mads Thomassen, Stephen Fox, 2011, Cancer Epidemiology, Biomarkers & Prevention.

Common germline polymorphisms associated with breast cancer-specific survival

W. Willett, S. Cross, M. Beckmann, 2015, Breast Cancer Research.

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

A. Whittemore, W. Willett, S. Cross, 2019, British Journal of Cancer.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

Hereditary : BRCA and Other

S. Manoukian, J. Azzollini, L. Fontana, 2020, Breast MRI for High-risk Screening.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

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

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

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

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

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

D. Steinemann, F. Couch, B. Bonanni, 2016, PloS one.

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

R. Nussbaum, D. Steinemann, F. Couch, 2016, Breast Cancer Research.

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

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

P. Radice, S. Manoukian, V. Pensotti, 2014, PloS one.

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

P. Radice, P. Peterlongo, S. Manoukian, 2012, Breast Cancer Research and Treatment.

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

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

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

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

A Comparison of Bilateral Breast Cancers in BRCA Carriers

O. Olopade, P. Møller, W. Foulkes, 2005, Cancer Epidemiology Biomarkers & Prevention.

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

S. Manoukian, A. Ferrari, B. Pasini, 2014, BMC Medical Genetics.

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

Janice Rowe, S. Manoukian, G. Peters, 2007, Cancer research.

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

S. Cross, P. Fasching, C. Vachon, 2016, Journal of Medical Genetics.

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

Patrick Neven, Peter Kraft, Nazneen Rahman, 2015 .

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.

Michael Jones, Nazneen Rahman, Michael Bremer, 2011, Human molecular genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2020 .

Rare variants in XRCC2 as breast cancer susceptibility alleles

F. Couch, J. Benítez, K. Offit, 2012, Journal of Medical Genetics.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

P. Radice, S. Manoukian, E. Trevisson, 2019, Cancers.

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

A. Spurdle, C. Lázaro, P. Radice, 2019, Cancers.

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Filomena Ficarazzi, Monica Barile, Paolo Radice, 2013, PloS one.

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

B. Bonanni, P. Radice, P. Peterlongo, 2014, Genetics in Medicine.

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

Olufunmilayo I. Olopade, Mads Thomassen, Dieter Niederacher, 2016, Breast Cancer Research.

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

O. Olopade, P. Møller, W. Foulkes, 2013, Breast Cancer Research and Treatment.

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

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

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

P. Bugert, K. Hemminki, A. Meindl, 2010, Human mutation.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

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

Dong Liang, Patrick Neven, Harvey Risch, 2016, Journal of the National Cancer Institute.

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

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

J. Bartek, P. Radice, S. Manoukian, 2011, Breast Cancer Research and Treatment.

BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

P. Radice, S. Manoukian, M. Montagna, 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

Andrej Sali, Rachel Karchin, Rebecca Sutphen, 2007, Cancer research.

Classification of BRCA1 missense variants of unknown clinical significance

F. Barany, Å. Borg, G. Chenevix-Trench, 2005, Journal of Medical Genetics.

miR-342 Regulates BRCA1 Expression through Modulation of ID4 in Breast Cancer

G. Calin, M. Gariboldi, P. Radice, 2014, PloS one.

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

M. Daly, D. Altshuler, F. Couch, 2010, PLoS genetics.

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

Dieter Niederacher, Ute Hamann, Alfons Meindl, 2008, American journal of human genetics.

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

P. Radice, S. Manoukian, E. Sensi, 2004, Human mutation.

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

B. Bonanni, P. Radice, P. Peterlongo, 2018, Breast.

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

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

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

Stephanie A Cohen, F. Couch, O. Olopade, 2016, British Journal of Cancer.

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

Charis Eng, Fergus Couch, Kevin Sweet, 2013, British Journal of Cancer.

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

J. Benítez, M. Southey, F. Odefrey, 2013, PloS one.

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

Jaana M. Hartikainen, A. Whittemore, S. Cross, 2015, Journal of the National Cancer Institute.

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

Etienne Rouleau, Paolo Peterlongo, Eliseos J Mucaki, 2018, Human mutation.

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

Michael Jones, Nazneen Rahman, Daniel J. Park, 2012, Nature Genetics.

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

Jane E. Carpenter, A. Whittemore, W. Chung, 2016, Nature Communications.

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

Julie O. Culver, F. Couch, E. Goode, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

A. Acquaviva, T. Hadjistilianou, S. Manoukian, 2006, Journal of Human Genetics.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

A. Whittemore, W. Chung, L. Kiemeney, 2022, European Journal of Human Genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

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

Jane E. Carpenter, M. Beckmann, A. Børresen-Dale, 2020, Scientific Reports.

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

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

X chromosome inactivation pattern in BRCA gene mutation carriers.

P. Radice, S. Manoukian, V. Pensotti, 2013, European journal of cancer.

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

S. Manoukian, B. Peissel, M. Miozzo, 2020, Cancers.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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

S. Cross, M. Beckmann, P. Fasching, 2022 .

Identification and characterization of novel associations in the CASP 8 / ALS 2 CR 12 region on chromosome 2 with breast cancer risk

Halverson, Kristen S Purrington, M. Beckmann, 2014 .

Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer

S. Manoukian, S. Pizzamiglio, B. Paolini, 2019, Cancers.

Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA )

R. Nussbaum, V. Pankratz, F. Couch, 2011 .

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

Jack A. Taylor, S. Cross, M. Beckmann, 2021, American journal of human genetics.

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

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

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

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

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

S. Cross, M. Beckmann, P. Fasching, 2018, Human mutation.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

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

Christiana Kartsonaki, Mads Thomassen, Etienne Rouleau, 2011, Human molecular genetics.

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

S. Cross, M. Beckmann, P. Fasching, 2016, International journal of cancer.

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

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

S. Cross, R. Schulz-Wendtland, M. Beckmann, 2012, Cancer Epidemiology, Biomarkers & Prevention.

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

J. Hopper, D. Easton, P. Pharoah, 2008, British Journal of Cancer.

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

Joshua M. Korn, Debra, M. Daly, 2010, PLoS genetics.

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

Jan Lubinski, Fergus Couch, Ping Sun, 2008, International journal of cancer.

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

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

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) Clinical Working Group.

F. Couch, O. Olopade, R. Eeles, 2018, JCO precision oncology.

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus

Jane E. Carpenter, Jaana M. Hartikainen, S. Cross, 2016 .

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

S. Manoukian, B. Peissel, J. Azzollini, 2019, Psycho-oncology.

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

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

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

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

F. Couch, T. Rebbeck, J. Benítez, 2011, Human molecular genetics.

A Targeted Approach to Genetic Counseling in Breast Cancer Patients: The Experience of an Italian Local Project

P. Radice, S. Manoukian, V. Pensotti, 2016, Tumori.

Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

Two truncating variants in FANCC and breast cancer risk

Jane E. Carpenter, M. Beckmann, P. Fasching, 2019, Scientific Reports.

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

W. Willett, S. Cross, P. Fasching, 2017, International journal of epidemiology.

Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk

S. Cross, M. Beckmann, P. Fasching, 2015, Cancer Epidemiology, Biomarkers & Prevention.

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

Jaana M. Hartikainen, S. Cross, R. Schulz-Wendtland, 2012, Human mutation.

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

Paolo Peterlongo, Monica Barile, Paolo Radice, 2012, Human mutation.

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

A. Spurdle, G. Chenevix-Trench, J. Beesley, 2011, Breast Cancer Research and Treatment.

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

S. Manoukian, V. Pensotti, F. Giangaspero, 2020, Cancers.

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients

S. Manoukian, L. De Cecco, M. Dugo, 2021, Genes.

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.

P. Radice, P. Peterlongo, S. Manoukian, 2015, European journal of cancer.

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

P. Radice, S. Manoukian, V. Pensotti, 2007, European journal of cancer.

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

P. Radice, P. Peterlongo, S. Manoukian, 2013, Breast Cancer Research and Treatment.

Malignant salivary gland tumours in families with breast cancer susceptibility

P. Radice, S. Manoukian, A. Vingiani, 2021, Virchows Archiv.

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

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.

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

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Jane E. Carpenter, Jack A. Taylor, S. Cross, 2021, British Journal of Cancer.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

W. He, M. Beckmann, N. Camp, 2023, European Journal of Human Genetics.

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families

E. Arbustini, S. Manoukian, V. Pensotti, 2021, Tumori.

SNPs in ultraconserved elements and familial breast cancer risk.

P. Radice, P. Peterlongo, S. Manoukian, 2009, Carcinogenesis.

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

S. Cross, M. Beckmann, P. Fasching, 2017, Breast Cancer Research.

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)

G Rennert, N Weerasooriya, K Offit, 2009, British Journal of Cancer.

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

Jeffery M. Meyer, Jack A. Taylor, A. Whittemore, 2018, International journal of epidemiology.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

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

Gary D Bader, S. Cross, M. Beckmann, 2020, Nature Communications.

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

W. Willett, S. Cross, P. Fasching, 2017, International Journal of Epidemiology.

Body mass index and breast cancer survival

S. Cross, P. Fasching, Jingmei Li, 2017 .

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Kristen S Purrington, Ali Amin Al Olama, S. Cross, 2014, Human molecular genetics.

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

A. Whittemore, S. Cross, M. Beckmann, 2016, Cancer Causes & Control.

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

Gary D. Bader, Christine L. Clarke, Gary D Bader, 2020, Nature Communications.

The impact of coding germline variants on contralateral breast cancer risk and survival

W. He, A. Børresen-Dale, N. Camp, 2023, American journal of human genetics.

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

A. Paradiso, P. Radice, S. Manoukian, 2020, Cancers.

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

S. Cross, M. Beckmann, P. Fasching, 2016, Scientific Reports.

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

B. Bonanni, G. Matullo, P. Radice, 2021, Cancers.

New trends of MRI in breast cancer diagnosis

S. Manoukian, G. Trecate, D. Vergnaghi, 2008 .

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

P. Radice, S. Manoukian, E. Sensi, 2007, Breast Cancer Research and Treatment.

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

D. Easton, J. Hopper, D. Easton, 2005, Journal of Medical Genetics.

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

Jack A. Taylor, S. Cross, M. Beckmann, 2022, Communications Biology.

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

Kristen S Purrington, P. Fasching, A. Ashworth, 2014, British Journal of Cancer.

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model

S. Manoukian, G. Pruneri, A. Vingiani, 2022, Frontiers in Oncology.

Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy.

N. Newman, S. Manoukian, D. Wallace, 1992, American journal of ophthalmology.

Efficacy and Safety of First-line Carboplatin-paclitaxel and Carboplatin-gemcitabine in Patients With Advanced Triple-negative Breast Cancer: A Monocentric, Retrospective Comparison.

L. Mariani, S. Manoukian, G. Pruneri, 2022, Clinical breast cancer.

Treating secondary malignant neoplasms: A burden of childhood cancer survivors

S. Manoukian, A. Ferrari, C. Morosi, 2023, Tumori.

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

T. Walsh, M. King, O. Olopade, 2016, Breast Cancer Research and Treatment.

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

P. Fasching, J. Cerhan, D. Noh, 2011, British Journal of Cancer.

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

F. Berrino, S. Manoukian, P. Pasanisi, 2014, Familial Cancer.

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

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.

Adherence to Mediterranean Diet and Metabolic Syndrome in BRCA Mutation Carriers

S. Manoukian, P. Pasanisi, E. Bruno, 2017, Integrative cancer therapies.

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

P. Radice, S. Manoukian, V. Pensotti, 2010, Breast Cancer Research and Treatment.

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

O. Olopade, P. Møller, W. Foulkes, 2014, Breast Cancer Research and Treatment.

Rare copy number variants (CNVs) and breast cancer risk

Jack A. Taylor, S. Cross, M. Beckmann, 2021, bioRxiv.

Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma

S. Manoukian, G. Pruneri, A. Vingiani, 2023, Scientific reports.

Evidence for a link between TNFRSF11A and risk of breast cancer

F. Climent, J. Benítez, M. Pujana, 2011, Breast Cancer Research and Treatment.

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

S. Manoukian, F. D. De Braud, G. Mariani, 2018, Scientific Reports.

Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study.

B. Bonanni, P. Radice, P. Peterlongo, 2023, European journal of cancer.

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

P. Radice, P. Peterlongo, S. Manoukian, 2008, Cancer Detection and Prevention.

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

S. Manoukian, B. Peissel, J. Azzollini, 2017, Familial Cancer.

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

J. Benítez, G. Giles, G. Severi, 2011, Journal of Medical Genetics.

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

S. Manoukian, D. Milani, D. Giardino, 2018, Molecular Cytogenetics.

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

P. Radice, P. Peterlongo, S. Manoukian, 2012, Breast Cancer Research and Treatment.

Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma

S. Manoukian, A. Ferrari, M. Massimino, 2021, International Journal of Clinical Oncology.

Molecular and Cellular Pathobiology 19 p 13 . 1 Is a Triple-Negative – Speci fi c Breast Cancer Susceptibility Locus

Xiaoqing, Daniel J. Park, Arif, 2012 .

Kaufman oculocerebrofacial syndrome in a girl of 15 years.

S. Manoukian, F. Lalatta, A. Selicorni, 1995, American journal of medical genetics.

Identification and characterisation of novel associations in the CASP 8 / ALS 2 CR 12 region 1 on chromosome 2 with breast cancer risk 2 3

Kristen S Purrington, Hein, A. Ashworth, 2014 .

Rapid progression of prostate cancer in men with a BRCA2 mutation

P Ghadirian, F. Couch, D. Horsman, 2008, British Journal of Cancer.

Molecular Tumor Board as a Clinical Tool for Converting Molecular Data Into Real-World Patient Care.

G. Apolone, S. Manoukian, G. Pruneri, 2023, JCO precision oncology.

Breast cancers arising in subjects with germline BRCA1 or BRCA2 mutations: different biological and clinical entities with potentially diverse therapeutic opportunities.

S. Manoukian, G. Pruneri, A. Vingiani, 2023, Critical reviews in oncology/hematology.

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

P. Peterlongo, S. Manoukian, P. L. Poliani, 2015, Scientific Reports.

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

P. Radice, P. Peterlongo, S. Manoukian, 2012, PLoS ONE.

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

S. Manoukian, S. Rossetti, A. Selicorni, 1993, American journal of medical genetics.

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

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

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

P. Radice, P. Peterlongo, S. Manoukian, 2019 .

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

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, David Evans, 2017 .

University of Groningen Identification of a BRCA 2-Specific Modifier Locus at 6 p 24 Related to Breast Cancer

D. Altshuler, V. Pankratz, F. Couch, 2017 .

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

A. Whittemore, S. Cross, R. Nussbaum, 2016, Breast Cancer Research.

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

F. Berrino, P. Radice, S. Manoukian, 2014, Familial Cancer.

Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility.

Hyunsoo Kim, C. Croce, R. Spizzo, 2010, Cancer research.

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

Sebastian M. Armasu, Jaana M. Hartikainen, A. Whittemore, 2013, Nature Genetics.

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

Kristen S Purrington, Jack A. Taylor, A. Whittemore, 2018, American Journal of Human Genetics.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Yurii B. Shvetsov, Simon G. Coetzee, Dennis J. Hazelett, 2014, Nature Genetics.

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

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2011, Methods in Molecular Biology.

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

A. Whittemore, W. Willett, S. Cross, 2019, British Journal of Cancer.

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Jack A. Taylor, C. Vachon, K. Czene, 2023, Human Mutation.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

V. Pankratz, F. Couch, T. Rebbeck, 2011, Human molecular genetics.

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

B. Bonanni, O. Olopade, B. Karlan, 2012 .

9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

S. Cross, R. Schulz-Wendtland, M. Beckmann, 2012, Cancer Epidemiology, Biomarkers & Prevention.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2020, Methods in Molecular Biology.

B. Bonanni, C. Zuiani, M. Federico, 2011, Investigative radiology.

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

S. Cross, P. Fasching, C. Vachon, 2016, Journal of Medical Genetics.

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

A. Whittemore, F. Couch, B. Bonanni, 2015 .

Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier.

S. Manoukian, B. Pasini, G. C. Casalis Cavalchini, 2002, Journal of experimental & clinical cancer research : CR.

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

Jaana M. Hartikainen, Sandra L. Halverson, A. Whittemore, 2015, Nature Genetics.

BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

P. Radice, S. Manoukian, M. Montagna, 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

S. Manoukian, C. Brunelli, B. Peissel, 2014, Clinical genetics.

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

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.