Swiss guidelines for counselling and testing

Genetic predisposition to breast and ovarian cancer

Organisations

These guidelines have been approved by the SAKK Breast Cancer Project Group and the Gynecological Cancers Working Group. This document reflects clinical and scientific advances as of the date of publication and is subject to change.

Published on: 24.05.2017

Pierre O. Chappuis

Barbara Bolliger

Nicole Bürki

Katharina Buser

Karl Heinimann

Christian Monnerat

Rudolf Morant

Olivia Pagani

Lucien Perey

Manuela Rabaglio

Sheila Unger

^a Division of Oncology and Division of Genetic Medicine, University Hospitals of Geneva, CH-1205 Geneva; ^b Tumor- und Brustzentrum ZeTuP,
CH-9006 St. Gallen; ^c Division of Gynecologic Oncology, University Hospital Basel, CH-4055 Basel; ^d Sonnenhof Klinik Engeried, CH-3012 Bern;
^e Division of Medical Genetics, University Hospital Basel, CH-4031 Basel; ^f Division of Oncology, Hôpital du Jura-Delémont, CH-2800 Delémont;
^g Tumorzentrum ZeTuP, Rapperswil-Jona, CH-8640 Rapperswil; ^hIstituto Oncologico della Svizzera Italiana, Ospedale Regionale Bellinzona e Valli,
CH-6500 Bellinzona; ⁱ Division of Oncology, Hôpital de Morges, CH-1110 Morges; ^j Division of Medical Oncology, UCI University Cancer Center Inselspital, CH-3010 Bern; ^k Division of Medical Genetics, CHUV-Lausanne University Hospital, CH-1011 Lausanne

*these authors contributed equally to this publication

Introduction

BRCA1 and BRCA2 are the main genes involved in the hereditary breast and ovarian cancer syndrome with an autosomal dominant mode of inheritance. The frequency of germ-line BRCA1/BRCA2 pathogenic variants is about 1:400 to 1:800 among healthy women from the Western non-Jewish white population. Carrying a germ-line mutation in BRCA1 or BRCA2 is associated with 40% to 75% cumulative risk of developing breast cancer and 15% to 60% cumulative risk for ovarian cancer by age 70 years [1]. About 3–5% of all breast cancer and 10–15% of unselected invasive ovarian cancer cases are BRCA-related [2]. Other rare high- to moderate-risk inherited syndromes can associate breast or ovarian cancer [3, 4].

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