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Clinical Management of Hereditary Breast Cancer Syndromes

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Journal of Mammary Gland Biology and Neoplasia Aims and scope Submit manuscript

Abstract

Over the past 15 years there has been substantial improvement in the understanding of hereditary breast cancer. Germline genetic testing for mutations in BRCA1, BRCA2, PTEN and TP53 allows for the identification of individuals at increased risk for breast, ovarian and other cancers. Advances in screening, prevention and treatment have led to improved clinical management which is best defined for BRCA1 and BRCA2 mutation carriers. The addition of screening techniques such as breast magnetic resonance imaging has been shown to lead to earlier detection. Risk-reducing salpingo-oophorectomy leads to a reduction in the risk of both ovarian cancer and breast cancer and also is associated with an improvement in overall survival. BRCA1/2 mutation status may be applicable to systemic therapy decisions. Preclinical and early clinical research suggests that specific classes of chemotherapy may be more effective in mutation carriers. Finally, PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies.

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Abbreviations

CMF:

cyclophosphamide, methotrexate and 5FU

CS:

Cowden Syndrome

ER:

estrogen receptor

HBOC:

hereditary breast and ovarian cancer syndrome

HRT:

hormone replacement therapy

LFL:

Li Fraumeni-Like Syndrome

LFS:

Li Fraumeni Syndrome

MRI:

magnetic resonance imaging

OCP:

oral contraceptive pills

OR:

odds ratio

ORR:

objective response rate

PARP:

poly(ADP-ribose) polymerase

pCR:

pathological complete response

PR:

progesterone receptor

RRM:

risk reducing bilateral mastectomy

RRSO:

risk reducing salpingo-oophorectomy

SERMS:

selective estrogen receptor modulators

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Acknowledgements

This work was supported by the MacDonald Family Foundation to SMD.

Financial disclosures

Dr. Domchek has received clinical research funding from Astra-Zeneca

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  1. Abramson Cancer Center, Hospital of the University of Pennsylvania, 3400 Civic Center Blvd, Perelman 3 West, Philadelphia, PA, 19104, USA

    Amy S. Clark & Susan M. Domchek

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  1. Amy S. Clark
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Correspondence to Susan M. Domchek.

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Clark, A.S., Domchek, S.M. Clinical Management of Hereditary Breast Cancer Syndromes. J Mammary Gland Biol Neoplasia 16, 17–25 (2011). https://doi.org/10.1007/s10911-011-9200-x

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