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Seigo Nakamura - Hereditary Breast and Ovarian Cancer: Molecular Mechanism and Clinical Practice

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Seigo Nakamura Hereditary Breast and Ovarian Cancer: Molecular Mechanism and Clinical Practice

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This highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease.
Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.

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Seigo Nakamura - Hereditary Breast and Ovarian Cancer: Molecular Mechanism and Clinical Practice
Hereditary Breast and Ovarian Cancer: Molecular Mechanism and Clinical Practice
Seigo Nakamura
Hereditary Breast and Ovarian Cancer: Molecular Mechanism and Clinical Practice

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Book cover of Hereditary Breast and Ovarian Cancer Editors Seigo Nakamura - photo 1
Book cover of Hereditary Breast and Ovarian Cancer
Editors
Seigo Nakamura , Daisuke Aoki and Yoshio Miki
Hereditary Breast and Ovarian Cancer
Molecular Mechanism and Clinical Practice
1st ed. 2021
Logo of the publisher Editors Seigo Nakamura Department of Breast - photo 2
Logo of the publisher
Editors
Seigo Nakamura
Department of Breast Surgical Oncology, Showa University, School of Medicine, Tokyo, Japan
Daisuke Aoki
Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
Yoshio Miki
Department of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
ISBN 978-981-16-4520-4 e-ISBN 978-981-16-4521-1
https://doi.org/10.1007/978-981-16-4521-1
Springer Nature Singapore Pte Ltd. 2021
This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.
The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd.

The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore

Preface

All cancers are caused by genetic alterations, but not all are hereditary. In the USA or in Europe, about 510% of breast cancer and 1015% of ovarian cancer are thought to be hereditary. Nowadays, the incidence of breast cancer in Japan has rapidly increased up to 100000 cases per year. The proportion of HBOC cases is assumed to be almost the same in Japan. Therefore, we have established the Japanese Organization for Hereditary Breast and Ovarian Cancer (JOHBOC) since July 2016. The mission of the JOHBOC is (1) HBOC data registry, (2) education about HBOC to medical professionals, patients, and their families, and (3) clinical research related to the management of HBOC such as screening method including breast MRI, the significance of risk reducing mastectomy (RRM) or risk reducing salpingo-oophorectomy (RRSO), chemoprevention (tamoxifen or AI for prevention of breast cancer and oral contraceptive for ovarian cancer), and the positioning of new agents specific to BRCA mutations (PARP inhibitors). In the era of next-generation sequencing, we may encounter unexpected rare hereditary disease such as Li-Fraumeni syndrome (P53 mutation) or Cowden disease (PTEN mutation), and we should not miss them and send them to the specialist of each rare disease. And one of the hot topics of basic research for HBOC is to detect new genetic alterations related to carcinogenesis.

This book was originally planned for medical professionals who are interested in HBOC practice from a variety of aspects. And it was recommended to distribute to not only Japan but also other countries. Because we anticipate this book will contribute to collaborative works worldwide.

Lastly, we deliver an address of thanks to editors Ms. Machi Sugimoto and Ms. Kripa Guruprasad of Springer Nature.

Seigo Nakamura
Daisuke Aoki
Yoshio Miki
Tokyo, Japan Tokyo, Japan Tokyo, Japan
Contents
Reiko Yoshida
Tomohiko Ohta and Wenwen Wu
Sana Yokoi
Yuki Yoshino and Natsuko Chiba
Mayuko Inuzuka
Minoru Miyashita and Takanori Ishida
Kenta Masuda , Megumi Satake and Daisuke Aoki
Wakana Murakami , Mitsuhiro Tozaki , Kelly E. McCann and Stephanie Lee-Felker
Rurina Watanuki , Aiko Nagayama , Tetsu Hayashida and Yuko Kitagawa
Hiroshi Kobayashi
Rina Kotake , Yasue Tsuchida , Kumiko Kida and Hideko Yamauchi
Yusuke Kobayashi and Daisuke Aoki
Yasuyuki Kojima
Mika Okazawa-Sakai and Akira Hirasawa
Akihiro Sakurai
Masami Arai
Izen Ri and Kaori Muto
Shigeaki Sunada and Yoshio Miki
Akiyo Yoshimura
Koji Matsumoto
Springer Nature Singapore Pte Ltd. 2021
S. Nakamura et al. (eds.) Hereditary Breast and Ovarian Cancer https://doi.org/10.1007/978-981-16-4521-1_1
1. History, Advancements, and Future Strategies
Reiko Yoshida
(1)
Showa University, Advanced Cancer Translational Research Institute, Shinagawa-ku, Tokyo, Japan
(2)
Division of Cancer Genomics, Cancer Institute, Japanese Foundation for Cancer Research, Koto-ku, Tokyo, Japan
Reiko Yoshida
Email:
Abstract

Since the recognition of the genetic predisposition to breast and ovarian cancers, researchers have verified their genetic involvement and causative genes. Furthermore, treatment strategies and prevention care options to reduce the overall risk for hereditary cancers have been established based on rapid advancements in gene sequencing. Owing to the great efforts of our predecessors, the quality of life of patients diagnosed with hereditary tumors has been improved. This chapter introduces the history, advancements, and future strategies on hereditary breast and ovarian cancer (HBOC), which has a high prevalence of breast and ovarian cancer. In any field of medicine, first, clinical questions that foresee the truth arise; researchers then seek the truth, and clinicians deploy their knowledge in the medical field.

Management of hereditary breast and ovarian cancer (HBOC) is a typical model for other hereditary tumor syndromes.

Keywords
FBOC HBOC BRCA1/BRCA2 Genetic testing Multi-gene panel PARP inhibitor
1.1 History of Hereditary Breast Cancer (Fig. )
1.1.1 How It All Started
In 1866, Paul Broca, a French surgeon, was the first to describe a family with a high prevalence of breast cancer [].
Fig 11 Timeline of HBOC discovery and clinical setting AD autosomal - photo 3
Fig. 1.1

Timeline of HBOC discovery and clinical setting. AD autosomal dominant, NCCN National Comprehensive Cancer Network, NYS New York State, ACMG American College of Medical Genetics,

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