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The duplication in the primate lineage of a portion of the breast and ovarian cancer susceptibility gene BRCA1 has created a BRCA1 pseudogene 45 kb away. Non‐allelic homologous recombination (NAHR) between BRCA1 and BRCA1P1 has generated recurrent deleterious germ‐line 37‐kb deletions encompassing the first two exons of BRCA1, accounting for several breast and ovarian cancer families in various populations...
Classification of rare missense substitutions observed during genetic testing for patient management is a considerable problem in clinical genetics. The Bayesian integrated evaluation of unclassified variants is a solution originally developed for BRCA1/2. Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility...
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