Screening and Risk Reduction Strategies for Breast Cancer: Imaging Modality and Risk-Reduction Approaches

191 Pages·2023·9.92 MB·English

by  Masakazu Toi

Screening and Risk
Reduction Strategies
for Breast Cancer
Imaging Modality and
Risk-Reduction Approaches
Masakazu Toi
Editor
123
Screening and Risk Reduction
Strategies for Breast Cancer
Masakazu Toi
Editor
Screening and Risk
Reduction Strategies
for Breast Cancer
Imaging Modality
and Risk- Reduction Approaches
Editor
Masakazu Toi
Grad. School Medicine, Surgery
Kyoto University
Kyoto, Japan
ISBN 978-981-19-7629-2 ISBN 978-981-19-7630-8 (eBook)
https://doi.org/10.1007/978-981-19-7630-8
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Foreword
Breast cancer screening with mammography was a key development in the
second half of the twentieth century and contributed to improved outcomes
for those women diagnosed with breast cancer. The impact of screening
mammography on survival was demonstrated in multiple randomised trial,
and confirmed in many subsequent analyses examining population-based
screening programmes.
Mammographic screening is not without any associated harms—be these
to the individual or the system through false-positive recalls and treatment of
lesions detected on by screening that would never have become clinically
apparent in a patient’s lifetime in the absence of a screening programme.
Furthermore, significant financial investment is needed to maintain screening
programmes.
Screening as currently practised has been criticised by some who suggest
that the benefits from earlier detection are largely offset by the harms from
false-positive recalls and treatment of ‘overdiagnosed’ lesions. Others have
suggested that the absence of sophisticated risk assessment and adjustment
and reliance on a modality (mammography) with limited sensitivity and spec-
ificity in women with high breast density means that it is no longer fit for
purpose.
Organised screening programmes have arguably not progressed much
from the original format that was evaluated in randomised trials, targeted at
females over a certain age and based on mammography alone. This remains
the case despite dramatic improvement in our understanding of risk factors
for breast cancer, quantitative assessment of risk, and advances in breast
screening technologies.
The science behind risk assessment has become very sophisticated, incor-
porating more comprehensive understanding of epidemiology and assess-
ment of lifestyle risk factors for development of breast cancer. More recently,
the importance of mammographic density has become clearer, both as a
marker of increased risk and a factor associated with potential masking of a
cancer on screening mammography. Our understanding of the breast cancer
genetics has also blossomed, both in terms of single mutations associated
with high risk, and patterns of single nucleotide polymorphisms that modify
risk. A combination of risk factors may permit improved segmentation of the
population with a stratified approach to screening that allows intensified sur-
veillance in high-risk populations and potential de-escalation in low-risk
groups.
v
vi Foreword
Potential screening technologies have proliferated in recent years, with a
variety of potential strategies being advocated, evaluated, and subsequently
implemented around the world.
This book is very timely and systematically addresses the background to
screening, analyses the strengths and weaknesses of the knowledge-based
underpinning screening practices, and explores the various technological
advances that may allow more effective and affordable breast cancer
screening.
There are important and interesting contributions from leading experts in
both Asian and Western countries that cover the background and philosophy
of breast cancer screening and risk reduction as well as blood tests for risk
assessment and screening. In addition, a wide variety of existing and emerg-
ing breast imaging technologies are considered that may have a role in
twenty-first century breast cancer screening.
I commend the authors for their work and Professor Toi for his continued
leadership.
The Royal Melbourne and Women’s Hospitals Bruce Mann
Parkville, VIC, Australia
31 August, 2022
Preface
Details of processes controlling breast cancer development from the onset of
carcinogenesis to clinically detectable lesions (such as T1a/b/c) remain
poorly understood with much heterogeneity in tumour characteristics and
natural history. The nature of cancers that develop is very diverse; thus, some
tumours have a propensity to metastasise, while others undergo a phase of
dormancy before dissemination. Although understanding of breast cancer has
advanced remarkably in recent years, prediction of tumour characteristics
and behaviour of emergent cancers are challenging, particularly for sporadic
as opposed to many hereditary breast cancers.
Age is a crucial determinant of breast cancer incidence with involvement
of female sex hormones in the developmental process being a decisive factor
in aetiology. These reproductive factors interact with an individual’s genetic
background, lifestyle, and various environmental factors to collectively influ-
ence breast cancer risk.
Early detection of breast cancer offers the promise of improved prognosis.
Recent advances in systemic and loco-regional therapies have reduced the
chance of breast cancer-related distant invasive disease recurrence. According
to analyses based on modelling, combining early detection with appropriate
multidisciplinary management provides an additive effect to enhance clinical
outcomes. Over the past couple of decades, breast cancer has been classified
into multiple tumour subtypes providing opportunity for targeted therapies
and tailoring treatment based on each major tumour subtypes. Thus, strategies
for both escalation and de-escalation can be applied to each patient, with early
detection of disease providing a better chance of de-escalated therapies.
Some breast cancers that have been diagnosed pathologically have a long
sojourn period, and it may take time before they become a clinical problem.
For various reasons, including the precise nature of driver genes and clonal
evolution, together with the tumour microenvironment and immune system,
some cancers remain clinically inconsequential and do not pose a threat to
life. There are probability estimates for what percentage of breast cancers
detected as asymptomatic are indolent with both histopathological and
molecular analyses being associated with some degree of certainty.
Nonetheless, current information does permit accuracy of diagnosis and pre-
diction of level of indolence, for individual cases. Overdiagnosis is not only
an important clinical issue in screening programmes but also provides insight
into the innate biology of breast cancer.
vii
viii Preface
Breast cancer screening may be on the verge of a paradigm shift; mam-
mography remains the standard modality for screening, although ultrasound
is employed in some countries, and should be an option for screening women
with dense breasts. MRI screening has been shown to be of greater sensitivity
in women at high risk for breast cancer based on genetic predisposition.
Hereditary breast cancer genetic tests, polygenic risk scores, and specific risk
assessment tools have been developed to improve the accuracy of breast can-
cer risk assessment.
Genetic testing is becoming more widespread around the world and
acquiring increasing importance an integral investigation in current breast
cancer prevention strategy. A clinico-economic perspective should also be
considered when incorporating these tests into routine practice. Several pro-
spective clinical studies are currently underway to determine the optimal age
to commence screening and the best tools to implement stratified screening
that will ultimately more effectively reduce breast cancer mortality. Diagnosis
and prediction of cancer development by mammography using artificial intel-
ligence is about to enter a new phase of potential clinical application. There
are also advances in automated ultrasound and various novel approaches are
being investigated to detect or predict breast cancer with a combination of
imaging and blood-based methods. Advanced imaging techniques, such as
dedicated breast positron emission tomography (dbPET) have provided high-
resolution images that reflect the metabolic activity of lesions including
breast cancer. In addition, non-invasive imaging, such as microwave mam-
mography and photoacoustic imaging are actively being studied and devel-
oped. In parallel with these developments, multi-cancer early detection tests
using cell-free DNA have emerged along with other molecular approaches,
such as proteomics which show promise and potential as adjunctive screening
methods.
This book reviews different risk assessment strategies in the context of
breast cancer screening. Current issues, new approaches, and future perspec-
tives are highlighted. It is written and edited for medical professionals
involved in breast cancer practice, as well as for other healthcare workers
interested in pursuing a career in this field. It is hoped that this book will
contribute towards improving knowledge and understanding of this topic and
be a valuable resource for up-to-date references on prevention and treatment
of breast cancer.
Kyoto, Japan Mark Toi
Cambridge, UK John R. Benson
Acknowledgements
I would like to express my sincere gratitude to Prof. Takashi Inamoto, col-
leagues, and members of the Kyoto Breast Cancer Consensus Conference
(KBCCC) for their valuable advice and support in preparing this book. I take
this opportunity to thank all the authors from different academic organisa-
tions worldwide who contributed to this book.
My heartfelt gratitude to the team from the Breast Cancer Unit at Kyoto
University Hospital and Breast Surgery Department, Kyoto University, for
their technical expertise and clinical and scientific contributions to advancing
breast cancer care spanning over a decade and a half.
Ms. Jenny Chung and Ms. Uma Maheswari Srinivasan from Springer pro-
vided tremendous professional support during publication processing and
assisted in getting the book published on time.
I would also like to thank the Center for Cancer Control and Information
Services, National Cancer Center, Japan, and the Japanese Breast Cancer
Society (JBCS) for letting us use the JBCS registry to present new breast
cancer cases between 2004 and 2018 in this book.
A special thanks to Prof. John R. Benson, co-editor of this book, for taking
time out of his busy clinical and academic commitments to contribute multi-
ple chapters and co-edit this book. His support proved exceptionally timely in
finishing the book.
It was my pleasure working with Prof. Ismail Jatoi and Dr. Masako
Kataoka, co-editors of this book and for their valuable discussion and contri-
bution involving breast cancer overdiagnosis and screening modalities.
Thank you to Prof. Bruce Mann, the University of Melbourne and Director
of Breast Tumour Stream, Victorian Comprehensive Cancer Centre for pro-
viding the foreword for the book.
ix
Contents
Advances in Breast Cancer Screening: Precision, Imaging,
and Harms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Masakazu Toi, Masako Kataoka, Ravi Velaga, John R. Benson,
Masahiro Takada, and Ismail Jatoi
Breast Cancer Risk Assessment Models and Multi-Cancer Early
Detection Tests . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29
Masakazu Toi, Masako Kataoka, Ravi Velaga, John R. Benson,
and Yoshiaki Matsumoto
Hereditary Breast Cancer and Pathogenic Germline Variants . . . . . 45
Ravi Velaga, Masakazu Toi, Nobuko Kawaguchi- Sakita,
John R. Benson, and Noriko Senda
Over-Diagnosis and Breast Cancer Screening . . . . . . . . . . . . . . . . . . . 61
John R. Benson, Eric Jou, and Ismail Jatoi
Breast Cancer Screening with MRI in Women
with Over 20% Lifetime Risk . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77
Madeleine M. A. Tilanus-Linthorst and Emiel J. T. Rutgers
MRI for Breast Cancer Screening: Technical Consideration . . . . . . . 85
Masako Kataoka
Risk-Reducing Surgery for Breast Cancer . . . . . . . . . . . . . . . . . . . . . . 97
John R. Benson, Samantha Muktar, and Ismail Jatoi
Cost-Effectiveness of Genetic Testing Strategies
for Breast Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113
Samuel Oxley, Xia Wei, Michail Sideris, and Ranjit Manchanda
Biomarkers in Proteomics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 127
Dong-Young Noh, Myeong-Hee Yu, Yumi Kim, and Tae Yoon Oh
Ultrasound in Breast Cancer Screening . . . . . . . . . . . . . . . . . . . . . . . . 143
Narumi Harada-Shoji, Takanori Ishida, Akihiko Suzuki,
and Noriaki Ohuchi
xi