Volume 9 Supplement 1

VII Madrid Breast Cancer Conference: Changes in the treatment of breast cancer

Open Access

Algorithm for identification of individuals with hereditary predisposition to breast cancer and other breast cancer-associated forms of malignant neoplasms

  • IV Zalutsky1,
  • NN Antonenkova1 and
  • GM Porubova1
Breast Cancer Research20079(Suppl 1):SP19

https://doi.org/10.1186/bcr1725

Received: 23 May 2007

Published: 19 June 2007

Introduction

Hereditary cancers make up 5–15% of all forms of breast cancer (BC). BRCA1/2 mutations determine about 50% of hereditary BC forms and other pathologic BRCA1/2 genotype-associated forms of malignant neoplasms. Meta-analysis has demonstrated a high probability for development of ovarian cancer, gastric cancer, colon cancer, endometrial cancer, pancreatic cancer, skin melanoma, urinary bladder cancer, and head and neck tumours with pathologic BRCA1/2 genotype, which should be taken into consideration in medicogenetic consulting and monitoring of patient carriers.

Objective

To develop and introduce into clinical practice a diagnostic algorithm targeted at active identification of hereditary BC and other BRCA1/2 mutation-associated forms of malignant neoplasms.

Methods

Questionnaires for patients, and molecular genetic blood analysis.

Results

Questionnaires for patients with BC, ovarian cancer or colon cancer reveal individuals with cancer-burdened heredity, whose blood is analysed for the presence of germinal mutations. Relatives of BRCA1/2 mutation-positive patients are subject to examination for both germinal mutation-carrying and tumour markers. A cohort is formed for targeted prophylactic medical examinations.

Conclusion

(1) An original method is developed for active identification of hereditary BC and other BC-associated malignant neoplasms. (2) The proposed method makes it possible to conduct targeted and efficient prophylatic medical examinations of germinal mutation carriers.

Authors’ Affiliations

(1)
NN Alexandrov Research Institute of Oncology and Medical Radiology

Copyright

© BioMed Central Ltd 2007

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