Journal of Molecular Medicine

, Volume 84, Issue 1, pp 16–28

Hereditary breast and ovarian cancer: review and future perspectives

  • Michael P. Lux
  • Peter A. Fasching
  • Matthias W. Beckmann
Review

DOI: 10.1007/s00109-005-0696-7

Cite this article as:
Lux, M.P., Fasching, P.A. & Beckmann, M.W. J Mol Med (2006) 84: 16. doi:10.1007/s00109-005-0696-7
  • 1.2k Downloads

Abstract

Breast cancer (BC) is the most frequent carcinoma in women. The cumulative risk for the disease is 10% up to the age of 80 years. A familial history of BC and ovarian cancer (OC) is a significant risk factor. Some 5–10% of all cases of BC and 25–40% of cases in patients under the age of 35 years have a hereditary origin. BRCA1/BRCA2 mutations are responsible for 3–8% of all cases of BC and 30–40% of familial cases. Ten percent of patients with OC have a genetic predisposition. About 80% of families with a history of OC have BRCA1 mutations, while 15% have BRCA2 mutations. Women at risk can receive counseling from interdisciplinary cancer genetics clinics, while those at high risk can receive genetic testing. Risk calculation programs can define the risks and assist in decision making for genetic testing and clinical options. Clinical options require information on the risks of the disease and its mutation status. Chemoprevention is currently a controversial topic, while the use of oral contraceptives can be regarded as reducing the risk for OC. Prophylactic mastectomy and bilateral ovariectomy are the only options that lead to a demonstrable reduction in risk, but they do, of course, affect the patient’s physical integrity. It is not currently known whether intensified early cancer detection is individually beneficial, but this is currently the option that is the least invasive and least burdensome to the patient. Although hereditary BC has different pathological characteristics and the BRCA mutation is an independent negative prognostic factor, there are currently no special treatment guidelines. Without adjuvant hormone therapy or chemotherapy, the overall survival in BRCA mutation carriers is reduced. Chemotherapy regimens involving platinum are particularly beneficial in the treatment of hereditary BC.

Keywords

Hereditary breast cancer Hereditary ovarian cancer BRCA Genetics Risk calculation Predictive genetic testing 

Abbreviations

BC

Breast cancer

BCDDP

Breast Cancer Detection Demonstration Project

BCPT-P1

Breast Cancer Prevention Trial, Phase 1

CASH

Cancer and Steroid Hormone (study)

CI

confidence interval

CORE

Continuing Outcomes Relevant to Evista (study)

DCIS

ductal carcinoma in situ

GISS

Goserelin Ibandronate Screening vs Screening (study)

GnRH

gonadotropin-releasing hormone

HLA

human leukocyte antigen

HNPCC

hereditary nonpolyposis colorectal carcinoma

IBIS

International Breast Intervention Study

LCIS

lobular carcinoma in situ

MRI

magnetic resonance imaging

OC

ovarian cancer

OR

odds ratio

RR

relative risk

SEER

Surveillance, Epidemiology, and End Results (study)

SIR

standardized incidence ratio

STAR

Study of Tamoxifen and Raloxifene

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Michael P. Lux
    • 1
  • Peter A. Fasching
    • 1
  • Matthias W. Beckmann
    • 1
  1. 1.Department of Obstetrics and GynecologyUniversity Clinic ErlangenErlangenGermany

Personalised recommendations