Genes (Jul 2021)

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in <i>BRCA1</i> or <i>BRCA2</i> Mutation Families

  • Marion Imbert-Bouteille,
  • Carole Corsini,
  • Marie-Christine Picot,
  • Lucas Mizrahy,
  • Sandrine Akouete,
  • Helena Huguet,
  • Frédéric Thomas,
  • David Geneviève,
  • Patrice Taourel,
  • Marc Ychou,
  • Virginie Galibert,
  • Chloé Rideau,
  • Karen Baudry,
  • Tatiana Kogut Kubiak,
  • Isabelle Coupier,
  • Rémy Hobeika,
  • Yvette Macary,
  • Alain Toledano,
  • Jérôme Solassol,
  • Antoine Maalouf,
  • Jean-Pierre Daures,
  • Pascal Pujol

DOI
https://doi.org/10.3390/genes12071100
Journal volume & issue
Vol. 12, no. 7
p. 1100

Abstract

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According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with BRCA1 or BRCA2 mutation (BRCAm) prompts advancing the age of risk-reducing strategies in relatives. This study aimed to assess the relation between the occurrence of VEO-BC or VEO-OC in families with BRCAm and age at BC or OC diagnosis in relatives. We conducted a retrospective multicenter study of 448 consecutive families with BRCAm from 2003 to 2018. Mean age and 5-year–span distribution of age at BC or OC in relatives were compared in families with or without VEO-BC or VEO-OC. Conditional probability calculation and Cochran–Mantel–Haenszel chi-square tests were used to investigate early-onset cancer occurrence in relatives of VEO-BC and VEO-OC cases. Overall, 15% (19/245) of families with BRCA1m and 9% (19/203) with BRCA2m featured at least one case of VEO-BC; 8% (37/245) and 2% (2/203) featured at least one case of VEO-OC, respectively. The cumulative prevalence of VEO-BC was 5.1% (95% CI 3.6–6.6) and 2.5% (95% CI 1.4–3.6) for families with BRCA1m and BRCA2m, respectively. The distribution of age and mean age at BC diagnosis in relatives did not differ by occurrence of VEO-BC for families with BRCA1m or BRCA2m. Conditional probability calculations did not show an increase of early-onset BC in VEO-BC families with BRCA1m or BRCA2m. Conversely, the probability of VEO-BC was not increased in families with early-onset BC. VEO-BC or VEO-OC occurrence may not be related to young age at BC or OC onset in relatives in families with BRCAm. This finding—together with a relatively high VEO-BC risk for women with BRCAm—advocates for MRI breast screening from age 25 regardless of family history.

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