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BRCA1 and BRCA2 Mutations : Diagnostic and Therapeutic Implications / / Edited by Mani T. Valarmathi
BRCA1 and BRCA2 Mutations : Diagnostic and Therapeutic Implications / / Edited by Mani T. Valarmathi
Pubbl/distr/stampa London : , : IntechOpen, , 2023
Descrizione fisica 1 online resource (134 pages)
Disciplina 616.99449042
Soggetto topico Breast - Cancer - Genetic aspects
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Preface -- Section 1 Hereditary Breast and Ovarian Cancer Syndrome -- Chapter 1 Introductory Chapter: The Influence of BRCA1/2 Genes Mutations on Hereditary Breast and Ovarian Cancer Syndrome - Is it in your Genes? by Mani T. Valarmathi Section 2 BRCA Discovery -- Chapter 2 Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact by Natalia B. Burachik, Ana Laura Ortiz and Edith C. Kordon Section 3 BRCA Structure and Function -- Chapter 3 BRCA Biological Functions by Divya Bhargavi Pulukuri, Vijaya Babu Penke, Divya Jyothi Palati, Prudvi Raj Pulla, Shanker Kalakotla and Siddhartha Lolla -- Chapter 4 The Fundamental Role of BARD1 Mutations and Their Applications as a Prognostic Biomarker for Cancer Treatment by Yousef M. Hawsawi and Anwar Shams -- Section 4 BRCA-Associated Cancers -- Chapter 5 BRCA Gene Mutations and Prostate Cancer by Gvantsa Kharaishvili, Mariam Kacheishvili and Giorgi Akhvlediani -- Chapter 6 Genomic Consequences of Ovarian Cancer with Respect to DNA Damage and Repair Mechanism by Sonali Verma, Gresh Chander, Ruchi Shah and Rakesh Kumar -- Section 5 BRCA Genetic Testing and Counselling -- Chapter 7 Implications of BRCA1 and BRCA2 Mutations in Mexico by Carlos Arturo Gonzalez Nuñez, Paula Anel Cabrera Galeana, Sandy Ruiz Cruz and Alexandra Garcilazo Reyes -- Chapter 8 Quality of Life is Essential: Implications for Diagnosis and Treatment for BRCA1/2 Germline Mutations by Yuliana Sanchez Contreras, Brigney Isvettia Aceves Poveda, David Neri Acosta Gutierrez and Rosa Maria Alvarez Gomez.
Altri titoli varianti BRCA1 and BRCA2 Mutations
Record Nr. UNINA-9910647494603321
London : , : IntechOpen, , 2023
Materiale a stampa
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Circulating Tumor Cells in Breast Cancer Metastatic Disease [[electronic resource] /] / edited by Roberto Piñeiro
Circulating Tumor Cells in Breast Cancer Metastatic Disease [[electronic resource] /] / edited by Roberto Piñeiro
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (XV, 167 p. 15 illus., 14 illus. in color.)
Disciplina 616.99449042
Collana Advances in Experimental Medicine and Biology
Soggetto topico Cancer research
Molecular biology
Biomedical engineering
Stem cells
Cancer Research
Molecular Medicine
Biomedical Engineering/Biotechnology
Stem Cells
Càncer de mama
Cèl·lules canceroses
Monitoratge de pacients
Soggetto genere / forma Llibres electrònics
ISBN 3-030-35805-4
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Preface -- Introduction – Biology of Breast Cancer Metastasis and Importance of the Analysis of CTCs -- Epithelial-Mesenchymal Plasticity in Circulating Tumor Cells, the Precursors of Metastasis -- Disseminated Tumor Cells and Dormancy in Breast Cancer Progression -- Methodology for the Isolation and Analysis of CTCs -- Advances in the Characterization of Circulating Tumor Cells in Metastatic Breast Cancer: Single Cell Analyses and Interactions, and Patient-derived Models for Drug Testing -- Circulating Tumor Cells (CTCs) Heterogeneity in Metastatic Breast Cancer: Different Approaches for Different Needs -- Relevance of CTC Clusters in Breast Cancer Metastasis -- Epigenetics of Circulating Tumor Cells in Breast Cancer -- Circulating Tumor Cells: Applications for Early Breast Cancer -- Clinical Relevance and Therapeutic Application of CTCs in Advanced Breast Cancer. .
Record Nr. UNINA-9910409698203321
Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
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Lo trovi qui: Univ. Federico II
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Genetics and epigenetics of breast cancer / / Madhumita Roy, Jaydip Biswas, and Amitava Datta
Genetics and epigenetics of breast cancer / / Madhumita Roy, Jaydip Biswas, and Amitava Datta
Autore Roy Madhumita
Edizione [First edition.]
Pubbl/distr/stampa Singapore : , : Springer, , [2023]
Descrizione fisica 1 online resource : illustrations
Disciplina 616.99449042
Soggetto topico Breast - Cancer - Genetic aspects
Breast Neoplasms
Epigenomics
ISBN 981-19-9925-2
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Record Nr. UNINA-9910726293803321
Roy Madhumita  
Singapore : , : Springer, , [2023]
Materiale a stampa
Lo trovi qui: Univ. Federico II
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Hereditary breast and ovarian cancer : molecular mechanism and clinical practice / / Seigo Nakamura, Daisuke Aoki, and Yoshio Miki, editors
Hereditary breast and ovarian cancer : molecular mechanism and clinical practice / / Seigo Nakamura, Daisuke Aoki, and Yoshio Miki, editors
Pubbl/distr/stampa Gateway East, Singapore : , : Springer, , [2021]
Descrizione fisica 1 online resource (324 pages) : illustrations
Disciplina 616.99449042
Soggetto topico Breast - Cancer - Molecular aspects
Ovaries - Cancer - Genetic aspects
Breast - Cancer - Genetic aspects
Breast Neoplasms - genetics
Ovarian Neoplasms - genetics
Càncer d'ovari
Càncer de mama
Genètica molecular humana
Soggetto genere / forma Llibres electrònics
ISBN 981-16-4521-3
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Intro -- Preface -- Contents -- 1: History, Advancements, and Future Strategies -- 1.1 History of Hereditary Breast Cancer (Fig. 1.1) -- 1.1.1 How It All Started -- 1.1.2 BRCA1 and BRCA2 in the Clinical Setting -- 1.2 Current Developments (Fig. 1.2) -- 1.2.1 Multi-gene Panel Testing and Non-BRCA Genes -- 1.2.2 Target Therapy -- 1.3 Future Strategies (Fig. 1.5) -- 1.4 Conclusion -- References -- 2: Molecular Basis of BRCA1 and BRCA2: Homologous Recombination Deficiency and Tissue-Specific Carcinogenesis -- 2.1 Introduction -- 2.2 Structure and Binding Partners of BRCA1/BRCA2 Proteins -- 2.3 BRCA1/BRCA2 Functions in HR and the Synthetic Lethality of PARP Inhibitors -- 2.3.1 HR Mediated by BRCA1/BRCA2 and a Backup Pathway Mediated by PARP1/PARP2 -- 2.3.2 Essential Role of BRCA1/BRCA2 in DNA Replication with PARP Trapping -- 2.4 Hypotheses for Tissue-Specific Carcinogenesis -- 2.4.1 Tissue-Specific DNA Damage Induced by ERα-Mediated Transcription -- 2.4.2 Tissue-Specific Growth Signaling by Estrogen in BRCA1-Defective Progenitor Cells -- 2.4.3 Tissue-Specific Survival Mediated by Estrogen -- 2.5 Perspectives -- References -- 3: Genetic Testing -- 3.1 Introduction -- 3.2 Aim of the Genetic Testing -- 3.2.1 Diagnosis of Hereditary Cancer and Companion Diagnostics for Certain Drugs in Cancer Patients -- 3.2.1.1 Appropriate Medical Care for Cancer -- 3.2.1.2 Prevention Against Cancer Risk of Other Organs That Are Not Currently Affected -- 3.2.1.3 Clarify the Possibility of Inheritance to Relatives -- 3.2.2 Diagnosis of Relatives -- 3.2.3 Secondary Findings (SF) (Germline Findings) -- 3.3 Best Test Candidate -- 3.4 Variants of BRCA1/BRCA2 Genes -- 3.5 Analytical Methods -- 3.5.1 Sanger Sequencing -- 3.5.2 Fragment Analysis -- 3.5.3 Array Comparative Genomic Hybridization (Array-CGH).
3.5.4 Next-Generation Sequencing (NGS) -- 3.6 Companion Diagnostics (CDx) -- 3.6.1 CDx -- 3.6.2 HRD -- 3.7 Quality Control -- 3.7.1 Preanalytic Phase -- 3.7.2 Analytic Phase -- 3.7.3 Postanalytic Phase -- 3.7.4 Validation -- 3.7.5 Internal Quality Control -- 3.7.6 External Quality Assessment -- 3.7.7 Certification Programs -- 3.7.7.1 Clinical Laboratory Improvement Amendments (CLIA) -- 3.7.7.2 Laboratory Accreditation Program (LAP) -- 3.7.7.3 ISO15189 -- 3.8 Interpretation -- 3.9 VUS -- 3.10 Summary -- References -- 4: Variants of Uncertain Significances in Hereditary Breast and Ovarian Cancer -- 4.1 Introduction -- 4.2 Guidelines for Variant Classification -- 4.3 VUS in BRCA1 and BRCA2 -- 4.4 Functional Assays to Evaluate the Effects of VUS -- 4.4.1 Functional Assays of BRCA1 -- 4.4.2 Functional Assays of BRCA2 -- 4.4.3 Perspective on Functional Assays of BRCA1 and BRCA2 -- 4.4.4 Utility of BRCA1 and BRCA2 Functional Assays -- 4.5 In Silico Prediction Tools -- 4.6 Multi-gene Panel Testing -- 4.7 Conclusions -- References -- 5: Genetic Counseling in Hereditary Breast and Ovarian Cancer -- 5.1 Introduction -- 5.2 Subjects of Genetic Counseling and BRCA1/BRCA2 Genetic Testing -- 5.3 Contents in Genetic Counseling -- 5.3.1 Family History and Risk Assessment -- 5.3.2 First Person in the Family to Be Tested -- 5.3.3 Interpretation of BRCA1/BRCA2 Genetic Testing Results -- 5.3.4 Sharing Genetic Information with Relatives -- 5.3.5 Risk of Discrimination -- 5.3.6 Presenting an Option of Not Undergoing Genetic Testing -- 5.3.7 Psychosocial Assessment -- 5.3.8 Reproductive Issues -- 5.4 Risk Communication -- 5.5 Future Outlook for Genetic Counseling -- References -- 6: Hereditary Breast Cancer -- 6.1 Introduction -- 6.2 BRCA1-/BRCA2-Related Breast Cancer.
6.3 What Is the Appropriate Surgical Management for BRCA1-/BRCA2-Related Breast Cancer? -- 6.3.1 Breast Conserving Surgery or Mastectomy -- 6.3.2 Nipple-Sparing Mastectomy -- 6.3.3 Contralateral Risk-Reducing Mastectomy -- 6.4 Can RT Be Recommended for BRCA1-/BRCA2-Related Breast Cancer? -- 6.4.1 Breast Radiation After BCS -- 6.4.2 Postmastectomy Radiation Therapy -- 6.4.3 RT-Related Toxicity -- 6.5 What Is the Role of Chemotherapy (Platinum) for BRCA1-/BRCA2-Related Breast Cancer? -- 6.5.1 Early Breast Cancer -- 6.5.2 Metastatic Breast Cancer -- 6.6 BRCA1-/BRCA2-Related Breast Cancer Has Worse Prognosis? -- 6.7 TP53-Related Breast Cancer -- 6.8 PTEN-Related Breast Cancer -- 6.9 CDH1-Related Breast Cancer -- 6.10 PALB2-Related Breast Cancer -- 6.11 CHEK2-Related Breast Cancer -- 6.12 ATM-Related Breast Cancer -- 6.13 STK11-Related Breast Cancer -- 6.14 Conclusion -- References -- 7: Hereditary Ovarian Cancer -- 7.1 Overview of Ovarian Cancer -- 7.1.1 Symptoms -- 7.1.2 Histologic Subtypes -- 7.1.3 Risk Factors -- 7.1.4 Screening -- 7.1.5 Treatment -- 7.2 Hereditary Ovarian Cancer -- 7.2.1 Ovarian Cancer in HBOC -- 7.2.1.1 Frequency of HBOC in Ovarian Cancer -- 7.2.1.2 Germline Testing for Ovarian Cancer Patients -- 7.2.1.3 Penetrance of BRCA1/BRCA2 Variant Carriers in Ovarian Cancer -- 7.2.1.4 Histology of Ovarian Cancer in HBOC -- 7.2.1.5 Ovarian Cancer Initiation in HBOC -- 7.2.1.6 Prognosis of BRCA1/BRCA2 Variant Carriers with Ovarian Cancer -- 7.2.1.7 Chemosensitivity and HRD of Ovarian Cancer in HBOC -- 7.2.1.8 Surveillance for Ovarian Cancer -- 7.2.2 Ovarian Cancer in Lynch Syndrome -- 7.2.3 Other Germline Variants Associated with Ovarian Cancer -- 7.2.3.1 RAD51C, RAD51D, BRIP1 -- 7.2.3.2 NBN, ATM, PALB2 -- References -- 8: Risk-Based Breast Cancer Screening -- 8.1 Introduction.
8.2 Comparison Between Japan and the USA -- 8.2.1 Definition of "High Risk" -- 8.2.2 Role of Breast Imaging Radiologists in the USA -- 8.2.3 High-Risk Program Clinic in the USA -- 8.3 Appropriate Clinical Management for High-Risk Women in Japan -- 8.3.1 The New Era of Personalized, Risk-Based Screening -- 8.3.2 Risk-Based Imaging Management -- 8.3.2.1 Clinical and Imaging Features of Women at High Risk for Breast Cancer -- Features of BRCA1/BRCA2 Germline Mutation Carriers -- Breast Density -- Background Parenchymal Enhancement (BPE) -- 8.3.2.2 Imaging Modality Choice -- Mammography: Limitations of Mammography -- Ultrasound: Differences Between Japan and the USA -- Pursuit of Quality-Assured MRI -- 8.3.2.3 Suggestions for Risk-Based Screening Management -- 8.4 Training of Breast Imaging Experts in Japan -- 8.4.1 Necessity of Breast Imaging Specialists -- 8.4.2 Communication with Patients via Outpatient Clinics and Reporting -- 8.4.3 Team-Based Care for Women at High Risk for Breast Cancer -- 8.5 Conclusion -- References -- 9: Chemoprevention for Breast Cancer -- 9.1 Introduction -- 9.2 Chemopreventive Drugs for Breast Cancer -- 9.2.1 Selective Estrogen Receptor Modulators -- 9.2.2 Aromatase Inhibitors -- 9.2.3 Denosumab -- 9.2.4 Poly ADP-Ribose Polymerase Inhibitors -- 9.2.5 Nonsteroidal Anti-inflammatory Drugs -- 9.2.6 Retinoids -- 9.3 Future Challenges -- References -- 10: Chemoprevention for Ovarian Cancer -- 10.1 Introduction -- 10.2 Methods -- 10.2.1 Literature Search -- 10.3 Results -- 10.3.1 Risk Management Options for Ovarian Cancer -- 10.3.2 Impact of Chemoprevention on Ovarian Cancer Risk -- 10.3.3 Biological Diversity of OC -- 10.4 Discussion -- References -- 11: Risk-Reducing Mastectomy (RRM) -- 11.1 Introduction -- 11.2 History of RRM -- 11.3 Risk Reduction of Developing Breast Cancer -- 11.3.1 BRRM.
11.3.2 CRRM -- 11.4 Survival Benefit -- 11.4.1 BRRM -- 11.4.2 CRRM -- 11.5 Occult Cancer -- 11.6 Psychological Relief -- 11.7 Cost Effectivity -- 11.8 Disadvantages -- 11.8.1 Surgical Procedure Risk -- 11.8.2 Morbidity and Physical Consequences -- 11.8.3 Psychological Consequences -- 11.9 Conclusion -- References -- 12: Risk-Reducing Salpingo-oophorectomy (RRSO) -- 12.1 Significance of RRSO -- 12.2 Standard RRSO Procedure -- 12.3 Surgical Options when Performing RRSO: Concurrent Hysterectomy and Two-Stage Surgery -- 12.4 Pathological Examination of RRSO Samples -- 12.5 Post-RRSO Health Care -- 12.6 Current State of RRSO and Future Prospects -- References -- 13: Panel Testing -- 13.1 Introduction -- 13.2 Cancer Genome Panel Tests -- 13.3 Types of Panel Tests -- 13.4 Purpose of the Gene Panel Test -- 13.5 Report Structure of the F1CDx -- 13.6 Report Structure of the NCC Oncopanel Test -- 13.7 C-CAT Report Structure -- 13.8 Expert Panel Configuration -- 13.9 Handling of Germline Findings in Panel Testing -- 13.10 Gene Panel Testing for Germline Variants -- References -- 14: Germline Findings Through Precision Oncology for Ovarian Cancer -- 14.1 Introduction -- 14.2 Germline Findings when Targeting the Tumor Genome -- 14.3 Why Are Germline Findings Important? -- 14.4 Candidates for Germline Genetic Testing -- 14.5 Report of Germline Findings -- 14.6 Testing Methods for Germline Pathogenic Variants and Presumed Germline Pathogenic Variants -- 14.6.1 Tumor-Normal Paired Testing with Germline Variant Subtraction -- 14.6.2 Tumor-Normal Paired Testing with Established Analyses of Genes Associated with Germline Cancer Predisposition -- 14.6.3 Tumor-Only Testing -- 14.7 Recognition of PGPVs Through Tumor-Only Testing -- 14.8 Clinical Utility of Tumor Genomic Profiling for Ovarian Cancer -- 14.9 Summary -- References.
15: Germline Findings from Genetic Testing for Breast Cancer.
Record Nr. UNINA-9910506401703321
Gateway East, Singapore : , : Springer, , [2021]
Materiale a stampa
Lo trovi qui: Univ. Federico II
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Management of the Patient at High Risk for Breast Cancer [[electronic resource] /] / edited by Nora M. Hansen
Management of the Patient at High Risk for Breast Cancer [[electronic resource] /] / edited by Nora M. Hansen
Edizione [1st ed. 2013.]
Pubbl/distr/stampa New York, NY : , : Springer New York : , : Imprint : Springer, , 2013
Descrizione fisica 1 online resource (192 p.)
Disciplina 616.99449042
Soggetto topico Surgery
Gynecology 
General Surgery
Gynecology
ISBN 1-299-19732-9
1-4614-5891-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto IDENTIFYING WOMEN AT HIGH RISK OF BREAST CANCER: UNDERSTANDING THE RISK MODELS -- GENETIC AND GENOMIC FACTORS IN BREAST CANCER -- BRCA MUTATION -- HIGH RISK BREAST LESIONS AND PATHOLOGIC EVALUATION -- MANAGEMENT OF HIGH RISK LESIONS -- RADIOLOGIC IMAGING FOR THE HIGH RISK PATIENT -- RISK REDUCTION STRATEGIES: MEDICAL ONCOLOGY -- RISK REDUCTION STRATEGIES: SURGICAL PERSPECTIVE -- OPTIONS AND ADVANCES IN BREAST RECONSTRUCTION -- MANAGEMENT OF CONCOMITANT CANCER RISK -- PSYCHOLOGICAL IMPLICATIONS OF TESTING POSITIVE FOR THE BRCA GENE -- THE HIGH TECH HIGH RISK CLINIC -- CURRENT AND FUTURE DIRECTION IN BASIC AND TRANSLATIONAL RESEARCH.
Record Nr. UNINA-9910438009203321
New York, NY : , : Springer New York : , : Imprint : Springer, , 2013
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Understanding Breast Cancer Genetics [[electronic resource]]
Understanding Breast Cancer Genetics [[electronic resource]]
Autore Zimmerman Barbara T
Pubbl/distr/stampa Jackson, : University Press of Mississippi, 2004
Descrizione fisica 1 online resource (131 p.)
Disciplina 616.99449042
Collana Understanding Health & Sickness
Soggetto topico Breast -- Cancer -- Genetic aspects
Breast -- Cancer -- Popular works
Breast neoplasms -- Genetics -- Popular works
Soggetto genere / forma Electronic books.
ISBN 1-282-48511-3
9786612485114
1-60473-044-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Contents; Acknowledgments; Introduction; 1. Who Gets Breast Cancer?; 2. What Is Breast Cancer?; 3. The Roles of Genes Versus Inheritance; 4. The Roles of BRCA1, BRCA2, and Other Cancer Genes; 5. Issues in Prevention and Control of Breast Cancer; 6. Breast Cancer Research; Appendix; Notes; Glossary; Index
Record Nr. UNINA-9910454740303321
Zimmerman Barbara T  
Jackson, : University Press of Mississippi, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
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Understanding Breast Cancer Genetics [[electronic resource]]
Understanding Breast Cancer Genetics [[electronic resource]]
Autore Zimmerman Barbara T
Pubbl/distr/stampa Jackson, : University Press of Mississippi, 2004
Descrizione fisica 1 online resource (131 p.)
Disciplina 616.99449042
Collana Understanding Health & Sickness
Soggetto topico Breast -- Cancer -- Genetic aspects
Breast -- Cancer -- Popular works
Breast neoplasms -- Genetics -- Popular works
ISBN 1-282-48511-3
9786612485114
1-60473-044-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Contents; Acknowledgments; Introduction; 1. Who Gets Breast Cancer?; 2. What Is Breast Cancer?; 3. The Roles of Genes Versus Inheritance; 4. The Roles of BRCA1, BRCA2, and Other Cancer Genes; 5. Issues in Prevention and Control of Breast Cancer; 6. Breast Cancer Research; Appendix; Notes; Glossary; Index
Record Nr. UNINA-9910782712903321
Zimmerman Barbara T  
Jackson, : University Press of Mississippi, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
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Understanding Breast Cancer Genetics [[electronic resource]]
Understanding Breast Cancer Genetics [[electronic resource]]
Autore Zimmerman Barbara T
Pubbl/distr/stampa Jackson, : University Press of Mississippi, 2004
Descrizione fisica 1 online resource (131 p.)
Disciplina 616.99449042
Collana Understanding Health & Sickness
Soggetto topico Breast -- Cancer -- Genetic aspects
Breast -- Cancer -- Popular works
Breast neoplasms -- Genetics -- Popular works
ISBN 1-282-48511-3
9786612485114
1-60473-044-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Contents; Acknowledgments; Introduction; 1. Who Gets Breast Cancer?; 2. What Is Breast Cancer?; 3. The Roles of Genes Versus Inheritance; 4. The Roles of BRCA1, BRCA2, and Other Cancer Genes; 5. Issues in Prevention and Control of Breast Cancer; 6. Breast Cancer Research; Appendix; Notes; Glossary; Index
Record Nr. UNINA-9910823739203321
Zimmerman Barbara T  
Jackson, : University Press of Mississippi, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
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