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Case-only study on the interaction of diet and genetic predisposition
in the occurrence of breast cancer in young women

Contract number : QLK1-2000-00466
Contract type : Shared Cost Project
Total cost : € 970.640
EC contribution : € 970.640
Starting date : 1/03/2001
Duration : 36 Months
Scientific Officer : Alkmini Katsada
Project website : not yet available
Dr Franco Berrino
Istituto Nazionale per lo Studio e la Cura dei Tumori
Unità di Epidemiologia
Via Venezian 1
20133 Milano
Tel.: +390270601853
Fax: +390270638398
E-mail: berrino @

The breast cancer (BC) risk of women with germline mutations of BRCAl or 2 or other high penetrance genes is dramatically increased especially at young ages. Dietary and other modifiable life-style factors, however, may influence the early occurrence of BC in mutation carriers. Fruit and vegetable, vitamin E, soy products and low glycaemic index food, as well as a low index of abdominal obesity, have been suggested to confer greater protection against hereditary BC than against sporadic BC. Mechanistic explanations include hormonal effects of diet and antioxidant protection in women with impaired DNA repair. This CASE-ONLY STUDY aims at testing exposure in patients with and without genetic predisposition, as established through family history or genetic testing. The study base will comprise over 5.000 patients who got BC before the age of 40.


MAIN OBJECTIVE: To investigate the interaction between genetic susceptibility and dietary factors in the occurrence of breast cancer (BC) ill young women.

MAIN EXPECTED ACHIEVEMENT: To establish whether there are perspectives for reducing heritable BC risk through dietary modifications, to quantify their potential effect, and to develop strategies for preventive counselling. Germline mutations of BC genes such as BRCAl and 2 confer very high lifetime risk of developing BC . Several mutations carriers, however, do not develop BC at all or develop it only late in life. It is reasonable to hypothesise, therefore, that the penetrance of the genetic trait may be regulated through other genetic or non-genetic factors. The confirmation of an association of modifiable environment factors with the penetrance of BC genes would help establishing priorities for preventive trials and would open a new perspective for genetic counselling.

(expected) Results and achievements
  • Establishment of the COS Working Group and election of a Steering Committee
  • Agreed protocol and questionnaires
  • Data base of patients recruited
  • Software for classifying families
  • Paper on "Selecting families for genetic susceptibility testing"
  • Systematic case-only analyses of gene-environment interactions
  • Scientific paper(s) on the effects of diet on the expression of BRCA genes
  • Final workshop and planning of further studies.


Registro Tumori di Ragusa
Lega Italiana per la Lotta contro i Tumori
Sezione di Ragusa Onlus
Via Dante N.109
97100 Ragusa
The University Court of The University of St Andrews
School of Biology
Bute Medical Building
KY16 9TS St Andrews Fyfe
United Kingdom
The University of Aberdeen
Department of Medicine & Therapeutics Medical Genetics
AB25 2ZD Aberdeen
United Kingdom
Université Louis Pasteur
Laboratoire d'Epidemiologie et de Santé Publique
67085 Strasbourg Cedex
Estonian Institute of Experimental and Clinical Medicine
Department of Oncology
Department of Epidemiology and Biostatistics
Hiiu 42
11619 Tallinn
Chaim Sheba Medical Center
Department of Clinical Epidemiology
52621 Tel Hashomer
Deutsches Krebsforschungszentrum
Abteilung Epidemiologie
Im Neuenheimer Feld 280
PO Box 101949
69120 Heidelberg
Institute of Oncology Ljubljana
Epidemiology Unit
Zaloska 2
1000 Ljubljana

Fifth Framework Programme

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