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01.12.2011 | Epidemiology

Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)

verfasst von: Julie Lecarpentier, Catherine Noguès, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Christine Lasset, Olivier Caron, Jean-Pierre Fricker, Laurence Gladieff, Laurence Faivre, Hagay Sobol, Paul Gesta, Marc Frenay, Elisabeth Luporsi, Isabelle Coupier, Rosette Lidereau, Nadine Andrieu, GENEPSO

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2011

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Abstract

Germline mutations in BRCA1/2 confer a high risk of breast cancer (BC), but the magnitude of this risk varies according to various factors. Although controversial, there are data to support the hypothesis of allelic-risk heterogeneity. We assessed variation in BC risk according to the location of mutations recorded in the French study GENEPSO. Since the women in this study were selected from high-risk families, oversampling of affected women was eliminated by using a weighted Cox-regression model. Women were censored at the date of diagnosis when affected by any cancer, or the date of interview when unaffected. A total of 990 women were selected for the analysis: 379 were classified as affected, 611 as unaffected. For BRCA1, there was some evidence of a central region where the risk of BC is lower (codons 374–1161) (HR = 0.59, P = 0.04). For BRCA2, there was a strong evidence for a region at decreased risk (codons 957–1827) (HR = 0.35, P = 0.005) and for one at increased risk (codons 2546–2968) (HR = 3.56, P = 0.01). Moreover, we found an important association between radiation exposure from chest X-rays and BC risk (HR = 4.29, P < 10⁻³) and a positive association between smoking more than 21 pack-years and BC risk (HR = 2.09, P = 0.04). No significant variation in BC risk associated with chest X-ray exposure, smoking, and alcohol consumption was found according to the location of the mutation in BRCA1 and BRCA2. Our findings are consistent with those suggesting that the risk of BC is lower in the central regions of BRCA1/2. A new high-risk region in BRCA2 is described. Taking into account environmental and lifestyle modifiers, the location of mutations might be important in the clinical management of BRCA mutation carriers.

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Titel: Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)
verfasst von: Julie Lecarpentier
Catherine Noguès
Emmanuelle Mouret-Fourme
Dominique Stoppa-Lyonnet
Christine Lasset
Olivier Caron
Jean-Pierre Fricker
Laurence Gladieff
Laurence Faivre
Hagay Sobol
Paul Gesta
Marc Frenay
Elisabeth Luporsi
Isabelle Coupier
Rosette Lidereau
Nadine Andrieu
GENEPSO
Publikationsdatum: 01.12.2011
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 3/2011
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-011-1655-3

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO)

Abstract

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Springer Medizin

Abstract

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