Hereditary Breast Cancer: BRCA Mutations and Beyond

Miral M Patel; Beatriz Elena Adrada

doi:10.1016/j.rcl.2023.12.014

Hereditary Breast Cancer: BRCA Mutations and Beyond

Radiol Clin North Am. 2024 Jul;62(4):627-642. doi: 10.1016/j.rcl.2023.12.014. Epub 2024 Mar 7.

Authors

Miral M Patel¹, Beatriz Elena Adrada²

Affiliations

¹ Department of Breast Imaging, The University of Texas MD Anderson Cancer Center, 1515 Holcombe, CPB5.3208, Houston, TX 77030, USA. Electronic address: MPatel6@mdanderson.org.
² Department of Breast Imaging, The University of Texas MD Anderson Cancer Center, 1515 Holcombe, CPB5.3208, Houston, TX 77030, USA.

PMID: 38777539
DOI: 10.1016/j.rcl.2023.12.014

Abstract

Hereditary breast cancers are manifested by pathogenic and likely pathogenic genetic mutations. Penetrance expresses the breast cancer risk associated with these genetic mutations. Although BRCA1/2 are the most widely known genetic mutations associated with breast cancer, numerous additional genes demonstrate high and moderate penetrance for breast cancer. This review describes current genetic testing, details the specific high and moderate penetrance genes for breast cancer and reviews the current approach to screening for breast cancer in patients with these genetic mutations.

Keywords: Breast cancer; Genetic mutation; Hereditary breast cancer; Screening.

Publication types

Review

MeSH terms

BRCA1 Protein / genetics
BRCA2 Protein / genetics
Breast Neoplasms* / diagnostic imaging
Breast Neoplasms* / genetics
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease*
Genetic Testing* / methods
Humans
Mutation*
Penetrance

Substances

BRCA1 Protein
BRCA2 Protein

Supplementary concepts

Breast Cancer, Familial