Editors' ChoiceGenetic Medicine

Genetic Screening to Beat Cancer

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Science Translational Medicine  30 Nov 2011:
Vol. 3, Issue 111, pp. 111ec193
DOI: 10.1126/scitranslmed.3003485

The deadliest cancers are frequently asymptomatic until they progress to late stages, when treatment has little chance of success. Ovarian carcinoma is such a villain, insidiously striking even young women and those with no family history of gynecologic cancers. Unlike cervical and breast cancers, which can be detected by using Pap smears and mammography, respectively, there is no effective screening method for ovarian cancer. Women with mutations in BRCA1 or BRCA2 have an increased risk of ovarian cancer; however, testing for these mutations to identify those at risk is costly and usually only performed for those with a family history of cancer. The development of a rapid and less expensive screening test for inherited mutations in 21 tumor suppressor genes, including BRCA1 and BRCA2, gives new hope in the cancer war.

Walsh and his colleagues report on 360 women with ovarian and other gynecologic cancers. Although most of these patients had no personal or family history of cancer, nearly a quarter had an inherited mutation in at least 1 of 12 tumor supressor genes. Knowing mutational status can be advantageous in several scenarios. For the patient, recent development of agents lethal to BRCA1- and BRCA2-deficient cancer cells makes mutation screening important for therapeutic decision-making. For her family, screening may identify a mutation requiring a cancer surveillance plan.

Future studies must determine the predictive value of screening for these mutations and evaluate the costs and benefits of knowing mutational status. The development of this test allows for appropriate epidemiologic studies and evaluation of clinical utility. The translation of cancer genetics in the development of this mutational-screening test promises to add a powerful weapon to the cancer control arsenal.

T. Walsh et al., Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc. Natl. Acad. Sci. U.S.A. 108, 18032–18037 (2011). [Abstract]

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