(HealthDay News) — Mutations in PALB2 and germline mutations in the multiple endocrine neoplasia type 1 (MEN1) tumor-suppressor gene causing MEN1 correlate with increased breast cancer risk, according to two studies published in the August 7 issue of the New England Journal of Medicine.

Antonis C. Antoniou, PhD, from the University of Cambridge in the United Kingdom, and colleagues examined the risk of breast cancer among 362 members of 154 families with deleterious truncating, splice, or deletion mutations in PALB2. The researchers found that compared with the general population, female PALB2 mutation carriers had an increased risk of breast cancer, which varied with age (8–9 time higher for those aged <40 years; 6–8 times higher for those aged 40–60 years; and five times higher for those aged >60 years). Among female mutation carriers, the cumulative risk of breast cancer was 14% by age 50 years and 35% by age 70 years.

Koen M.A. Dreijerink, MD, PhD, from the Dana-Farber Cancer Institute in Boston, and colleagues examined the role of MEN1 in human breast cancer using data from the Dutch longitudinal MEN1 database. The researchers found that among 190 female patients with MEN1, the relative risk of invasive breast cancer was 2.83 (P<0.001), with a standardized incidence ratio of 2.14. The observations were validated in three independent cohorts.

“Our observations indicate that MEN1 mutations are involved in human breast carcinogenesis,” Dreijerink and colleagues write.

Two Antoniou study authors disclosed being listed on patents licensed to Myriad Genetics. The Dreijerink study was partially funded by Ipsen Pharmaceuticals.

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