Family history of colorectal cancer in BRAF p.V600emutated colorectal cancer cases

Daniel D. Buchanan, Aung K. Win, Michael D. Walsh, Rhiannon J. Walters, Mark Clendenning, Belinda Nagler, Sally Ann Pearson, Finlay A. Macrae, Susan Parry, Julie Arnold, Ingrid Winship, Graham G. Giles, Noralane M. Lindor, John D. Potter, John L. Hopper, Christophe Rosty, Joanne P. Young, Mark A. Jenkins

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Background: Previous reports suggest that relatives of colorectal cancer (CRC)-affected probands carrying the BRAF p.V600E mutation are at an increased risk of CRC and extracolonic cancers (ECC). In this study, we estimated the association between a family history of either CRC or ECC and risk of CRC with a BRAF p.V600E mutation. Methods: Population-based CRC cases (probands, ages 18-59 years at diagnosis), recruited irrespective of family cancer history, were characterized for BRAF p.V600E mutation and mismatch repair (MMR) status. ORs and 95% confidence intervals (CI) were estimated using multivariable logistic regression. Results: The 690 eligible probands showed a mean age at CRC diagnosis of 46.9+7.8 years, with 313 (47.9%) reporting a family history of CRC and 53 (7.7%) that were BRAF-mutated. Probands with BRAF-mutated, MMR-proficient CRCswere less likely to have a family history ofCRCthan probands that wereBRAFwild-type (OR, 0.46; 95% CI, 0.24-0.91; P=0.03). For probands with a BRAF-mutated CRC, the mean age at diagnosis was greater for those with a CRC-affected first- or second-degree relative (49.3 + 6.4 years) compared with those without a family history (43.8 + 10.2 years; P = 0.04). The older the age at diagnosis of CRC with the BRAF p. V600E mutation, the more likely these probands were to show a family history of CRC (OR, 1.09 per year of age; 95% CI, 1.00-1.18; P = 0.04). Conclusions: Probands with early-onset,BRAF-mutated, andMMR-proficientCRCwere less likely to have a family history of CRC than probands that were BRAF-wild-type. Impact: These findings provide useful insights for cancer risk assessment in families and suggest that familial or inherited factors are more important in early-onset, BRAF-wild-type CRC. Cancer Epidemiol Biomarkers Prev; 22(5); 917-26.

Original languageEnglish (US)
Pages (from-to)917-926
Number of pages10
JournalCancer Epidemiology Biomarkers and Prevention
Issue number5
StatePublished - May 2013

ASJC Scopus subject areas

  • General Medicine


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