Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

open access (2015)

INTRODUCTION

ABSTRACT | INTRODUCTION | METHODS | RESULTS | DISCUSSION | CONCLUSIONS | ARTICLE INFORMATION | REFERENCES

 

Women who have inherited mutations in BRCA1 (17q21, chromosome 17: base pairs 43,044,294 to 43,125,482) or BRCA2 (13q12.3, chromosome 13: base pairs 32,315,479 to 32,399,671) have an increased risk of breast and ovarian cancers.^1,2 Little is known about how cancer risks differ by BRCA1 or BRCA2 (BRCA1/2) mutation type. An “ovarian cancer cluster region” (OCCR) has been reported in both BRCA1 and BRCA2 using small sample sets. For BRCA1, initially mutations after exon 11 were associated with a 20% lower ovarian cancer risk than mutations in exons 1 through 11.³ Following that observation, Thompson et al⁴ reported an increased risk of ovarian vs breast cancer specifically was associated with mutations in the central portion of exon 11. This association was attributed to both a decrease in breast cancer risk and an increase in ovarian cancer risk in this region...... Mutations in exon 11 of BRCA2 also have been associated with higher ovarian vs breast cancer risk than in other regions of the gene.^{5 ......}

CONCLUSIONS

Breast and ovarian cancer risks varied by type and location of BRCA1/2 mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making among carriers of BRCA1 and BRCA2 mutations.