Breast Cancer Research and Treatment

, Volume 141, Issue 1, pp 135–144 | Cite as

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

  • P. Pujol
  • D. Stoppa Lyonnet
  • T. Frebourg
  • J. Blin
  • M. C. Picot
  • C. Lasset
  • C. Dugast
  • P. Berthet
  • B. Bressac de Paillerets
  • H. Sobol
  • S. Grandjouan
  • F. Soubrier
  • B. Buecher
  • R. Guimbaud
  • R. Lidereau
  • P. Jonveaux
  • C. Houdayer
  • S. Giraud
  • S. Olschwang
  • E. Nogue
  • V. Galibert
  • C. Bara
  • F. Nowak
  • D. Khayat
  • C. Nogues
Epidemiology

Abstract

Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with BRCA1/2 or MMR genes mutation. Genetic testing and consultations for familial high-risk individuals are exclusively funded and monitored by the INCa in France. All nationwide cancer genetics centers reported annually standardized parameters of activity from 2003 to 2011. The analysis included a total of 240,134 consultations and 134,652 genetic tests enabling to identify 32,494 mutation carriers. Referral for hereditary breast and ovarian cancer (HBOC) or colorectal cancer predisposition syndromes represented 59 % (141,639) and 23.2 % (55,698) consultations, respectively. From 2003 to 2011, we found a dramatic and steady increase of tests performed for BRCA1/2 (from 2,095 to 7,393 tests/year, P < 0.0001) but not for MMR genes (from 1,144 to 1,635/year, P = NS). The overall percentage of deleterious mutations identified in the probands tested was 13.8 and 20.9 % in HBOC and Lynch syndromes, respectively. Pooled analysis for BRCA1/2 and Lynch syndrome tests showed an inverse relationship between the percentage of mutation detected and the absolute number of tests performed over the time (overall Cochran–Armitage test for trend: P < 0.001). In families with BRCA1/2 or MMR identified mutations, there was an average number of 2.94 and 3.28 relatives performing targeted tests, respectively. This nationwide study shows a lack of referral and genetic testing in Lynch as compared to HBOC syndromes. Only a third of relatives of a proband with a predisposing mutation performed a targeted test. Enhanced information about benefit of genetic testing should be given to clinicians and patients for Lynch syndrome and relatives of a proband carrying an identified predisposing mutation.

Keywords

Cancer genetics BRCA1 BRCA2 Lynch syndrome 

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • P. Pujol
    • 1
    • 2
  • D. Stoppa Lyonnet
    • 3
  • T. Frebourg
    • 4
  • J. Blin
    • 5
  • M. C. Picot
    • 1
  • C. Lasset
    • 6
  • C. Dugast
    • 7
  • P. Berthet
    • 8
  • B. Bressac de Paillerets
    • 9
  • H. Sobol
    • 10
  • S. Grandjouan
    • 11
  • F. Soubrier
    • 12
  • B. Buecher
    • 3
    • 13
  • R. Guimbaud
    • 14
  • R. Lidereau
    • 15
  • P. Jonveaux
    • 16
  • C. Houdayer
    • 3
  • S. Giraud
    • 17
  • S. Olschwang
    • 18
  • E. Nogue
    • 1
  • V. Galibert
    • 1
  • C. Bara
    • 5
  • F. Nowak
    • 5
  • D. Khayat
    • 5
    • 12
  • C. Nogues
    • 15
  1. 1.Centre Hospitalier Universitaire de MontpellierMontpellierFrance
  2. 2.INSERM 896MontpellierFrance
  3. 3.Institut CurieParisFrance
  4. 4.Service d’OncogénétiqueCentre Hospitalier Universitaire de RouenRouenFrance
  5. 5.Institut National du CancerBoulogne-BillancourtFrance
  6. 6.Centre Léon BérardLyonFrance
  7. 7.Centre Eugène MarquisRennesFrance
  8. 8.Centre François BaclesseCaenFrance
  9. 9.Institut Gustave RoussyVillejuifFrance
  10. 10.Institut Paoli CalmettesMarseilleFrance
  11. 11.Hôpital CochinAP-HPParisFrance
  12. 12.Hôpital Pitié SalpétrièreAP-HPParisFrance
  13. 13.Hôpital Européen Georges PompidouAP-HPParisFrance
  14. 14.Institut Claudius RégaudToulouseFrance
  15. 15.Institut CurieSaint-CloudFrance
  16. 16.Centre Hospitalier Universitaire de NancyNancyFrance
  17. 17.Hôpital Edouard HerriotLyonFrance
  18. 18.Hôpital La TimoneAP-HMMarseilleFrance

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