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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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Mathematical and computational studies on progress, prognosis, prevention and panacea of Breast Cancer / / Suhrit Dey, Charlie Dey
| Mathematical and computational studies on progress, prognosis, prevention and panacea of Breast Cancer / / Suhrit Dey, Charlie Dey |
| Autore | Dey Suhrit |
| Pubbl/distr/stampa | Singapore : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (377 pages) |
| Disciplina | 410.5 |
| Collana | Forum for Interdisciplinary Mathematics |
| Soggetto topico |
Oncology
Càncer de mama Models matemàtics Simulació per ordinador |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-16-6077-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996466552603316 |
Dey Suhrit
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| Singapore : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Mathematical and computational studies on progress, prognosis, prevention and panacea of Breast Cancer / / Suhrit Dey, Charlie Dey
| Mathematical and computational studies on progress, prognosis, prevention and panacea of Breast Cancer / / Suhrit Dey, Charlie Dey |
| Autore | Dey Suhrit |
| Pubbl/distr/stampa | Singapore : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (377 pages) |
| Disciplina | 410.5 |
| Collana | Forum for Interdisciplinary Mathematics |
| Soggetto topico |
Oncology
Càncer de mama Models matemàtics Simulació per ordinador |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-16-6077-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910556890703321 |
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Dey Suhrit
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| Singapore : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Mesenchymal tumors of the breast and their mimics : a diagnostic approach / / J. Jordi Rowea and Erinn Downs-Kelly, editors
| Mesenchymal tumors of the breast and their mimics : a diagnostic approach / / J. Jordi Rowea and Erinn Downs-Kelly, editors |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (264 pages) |
| Disciplina | 616.9 |
| Soggetto topico |
Breast - Tumors - Diagnosis
Càncer de mama Diagnòstic |
| Soggetto genere / forma | Llibres electrònics. |
| ISBN | 3-030-74474-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910495205503321 |
| Cham, Switzerland : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Soggetto topico
-
Càncer de mama
(14)
- Malalties de la mama (3)
- Oncology (3)
- Breast (2)
- Breast - Cancer - Treatment (2)