Diagnosis and Management of Hereditary Cancer: Tabular-Based Clinical and Genetic Aspects

By John W. Henson and Robert G Resta

Many hereditary cancer syndromes are linked to alterations in single genes. Detection and clinical interpretation of these alterations can guide cancer risk reduction for patients and their families through screening, prophylactic measures, and other strategies. Diagnosis and Management of Hereditary Cancer summarizes hereditary syndromes and their associated cancers and genes. The information is presented in 50 practice-enhancing tables that relate clinical, genetic, diagnostic, and management aspects in a manner that has previously not been available in a single reference. Intended to guide the specialist as well the novice, this volume will elevate the care of hereditary cancer patients and their families.

• Unique table-based presentation of 50 key aspects of hereditary cancer
• Clinical features, genetics, genetic testing, diagnosis, counseling, and management of multiple hereditary cancer syndromes
• Table-based format to inter-relate clinical and scientific information
• Landscape layout for easier viewing of tabular information

• Language: English
• Publisher: Academic Press
• Release date: Mar 20, 2021
• ISBN: 9780323885829

John W. Henson

Dr. Henson is director of the Hereditary Cancer Clinic at the Georgia Cancer Center, Medical College of Georgia, Augusta University, in Augusta, Georgia, USA. He has practiced neuro-oncology for over 25 years and is a well-published leader in several related fields, with over 125 papers and book chapters. He attended the Intensive Course in Cancer Genomic Risk Assessment at City of Hope in 2018. He was previously Chief of Oncology Services at Piedmont Healthcare and on the staff of Massachusetts General Hospital and the faculty of Harvard Medical School for 17 years. Dr. Henson is a member of numerous societies, including as an affiliate member of the American College of Medical Genetics.

Book preview

sequencing

Introduction

This book uses a tabular format to present practical clinical and genetic data regarding hereditary cancer in a compact and useful manner. The format also permits a cross-sectional comparison of concepts in a way that has not been previously available. These results are intended to be useful in the daily work of a busy practitioner, to be a heuristic resource to students who are mastering the vast amount of information in this subject area, and to stimulate broader conceptual interest in the monogenic disorders that underlie human cancer. It is said that a stitch in time saves nine, and nowhere is that saying more relevant than in the knowledgeable management of cancer risk.

Section A

Genetics

Table 1. Concepts in hereditary cancer genetics

Abstract

The first table in this section presents knowledge about normal genetics in short summary format and uses a hierarchical approach, starting with chromosomes and ultimately focusing down to the DNA base level. The second table provides an alphabetized list of the genetic alterations seen in human cancer, with a focused discussion of each. For each subject, the relevance to hereditary cancer is provided.

Keywords

Allele frequency; Alternate parentage; Anticipation; De novo; Digenic; Disomy; Dominant negative; Founder; Germline; Histones; Haploinsufficiency; Loss of heterozygosity; Microsatellite instability; Phenocopy; Polymorphism; Pseudogene; Splicing

Table 1