ABSTRACT In Latin America, breast cancer is the most common malignancy in women, and
limited available data suggest that up to 15% of all breast cancer cases in the region are …

Introduction 3. BRCA1 and BRCA2 sequence variants and prostate cancer 3.1. BRCA1/2
founder variants in the Ashkenazi Jewish population 3.2. BRCA2 founder variant in the …

Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of
hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of …

Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian
cancer. A common problem in clinical genetic testing is interpretation of variants with …

Abstract The c. 156_157insAlu BRCA2 mutation has so far only been reported in hereditary
breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not …

BACKGROUND Although in recent years deleterious BRCA1 mutations have been
extensively studied as a prostate cancer risk factor, results are inconclusive. To assess the …

Admixture occurs between different ethnic human populations. The global colonization in
recent centuries by Europeans led to the most significant admixture in human history. While …

Homologous recombination (HR)-deficient cells are sensitive to PARP inhibitors through a
synthetic lethal effect. We previously developed an HR activity assay named Assay of Site …

The presence of germline and somatic deleterious mutations in the BRCA1 and BRCA2
genes has important clinical consequences for breast cancer (BC) patients. Analysis of the …

An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c. 1187G> A, has
been observed in the Ecuadorian province of Manabí. Recently, the same mutation has …