Breast Cancer Genetics: Syndromes, Genes, Pathology, Counseling, Testing, and Treatment

Jessica Pastoriza; David M. Euhus

doi:10.1016/B978-0-323-83365-3.00010-8

Breast Cancer Genetics: Syndromes, Genes, Pathology, Counseling, Testing, and Treatment

Jessica Pastoriza
, David M. Euhus

Surgery

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Only 10% of breast cancers are related to inheritance of pathogenic variants in major autosomal dominant breast cancer predisposition genes. Nevertheless, genetic testing is a powerful risk stratification tool that empowers unaffected carriers to make decisions about enhanced surveillance, chemoprevention, and risk-reducing surgery so that cancers can be diagnosed early or avoided all together. Genetic testing is an essential step in the evaluation of patients recently diagnosed with breast cancer, as this information guides decisions about surgery, radiation, and systemic therapies. Genes firmly linked to elevated breast cancer risk include BRCA1, BRCA2, PALB2, CHEK2, ATM, TP53, CDH1, PTEN, STK11, NF1, and BARD1. Risk for breast and other cancers varies by gene, variant type, and family history..

Original language	English (US)
Title of host publication	Bland and Copeland's The Breast
Subtitle of host publication	Comprehensive Management of Benign and Malignant Diseases
Publisher	Elsevier
Pages	149,160.e1-160,160.e6
ISBN (Electronic)	9780323833653
ISBN (Print)	9780323833660
DOIs	https://doi.org/10.1016/B978-0-323-83365-3.00010-8
State	Published - Jan 1 2023

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Breast neoplasms
cancer genetics
familial breast cancer
genetic testing
multigene panels

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-323-83365-3.00010-8

Cite this

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abstract = "Only 10\% of breast cancers are related to inheritance of pathogenic variants in major autosomal dominant breast cancer predisposition genes. Nevertheless, genetic testing is a powerful risk stratification tool that empowers unaffected carriers to make decisions about enhanced surveillance, chemoprevention, and risk-reducing surgery so that cancers can be diagnosed early or avoided all together. Genetic testing is an essential step in the evaluation of patients recently diagnosed with breast cancer, as this information guides decisions about surgery, radiation, and systemic therapies. Genes firmly linked to elevated breast cancer risk include BRCA1, BRCA2, PALB2, CHEK2, ATM, TP53, CDH1, PTEN, STK11, NF1, and BARD1. Risk for breast and other cancers varies by gene, variant type, and family history..",

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KW - multigene panels

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Breast Cancer Genetics: Syndromes, Genes, Pathology, Counseling, Testing, and Treatment

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

Access to Document

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