CHEK2, P53, PTEN for breast cancer genetic testing – pro

Despite a negative (normal) genetic test for mutations in the BRCA1 and BRCA2 genes, about 12 percent of breast cancer patients from high-risk families carried previously undetected cancer-associated mutations. Risks for young women with inherited BRCA1 or BRCA2 mutations are particularly increased. Among white women in the U.S., 5 percent to 10 percent of breast cancer cases are due to inherited mutations in BRCA1 and BRCA2. Inherited mutations in other genes, including CHEK2, TP53 and PTEN, can also influence risk of breast cancer.  BART and PTEN mutationa are reviewed as a separate entry.

There is currently no clear understanding how these other factors can be used in planning therapy or genetic counselling and there are no guidelines to advise physicians.

Tom Walsh, PhD; Silvia Casadei, PhD; Kathryn Hale Coats, BS; Elizabeth Swisher, MD; Sunday M. Stray, BS; Jake Higgins, BS; Kevin C. Roach, BS; Jessica Mandell, MS, CGC; Ming K. Lee, PhD; Sona Ciernikova, PhD; Lenka Foretova, MD, PhD; Pavel Soucek, PhD; Mary-Claire King, PhD Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer JAMA. 2006;295:1379-1388

Pilarski R, Burt R, Kohlman W, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013; 105(21):1607-1616.

Pilarski R, Stephens JA, Noss R, et al. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. Aug 2011;48(8):505-512


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