Importance E-cadherin (CDH1) is a cancer predisposition gene mutated in families meeting
clinically defined hereditary diffuse gastric cancer (HDGC). Reliable estimates of cancer risk …

Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are
a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL) 1 , 2 , 3 , but inherited …

Importance Tumor genetic sequencing identifies potentially targetable genetic alterations
with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, …

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant
cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, …

The variant curation guidelines published in 2015 by the American College of Medical Genetics
and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the …

Purpose: Recent studies have identified mutation signatures of homologous recombination
deficiency (HRD) in over 20% of breast cancers, as well as pancreatic, ovarian, and gastric …

Next-generation sequencing (NGS) has enabled whole-exome and whole-genome sequencing
of tumors for causative mutations, allowing for more accurate targeting of therapies. In …

OBJECTIVE: To estimate the frequency of BRCA1 and BRCA2 germline mutations in women
with nonmucinous epithelial ovarian carcinoma unselected for a family history of breast or …

Understanding the gene-specific risks for development of breast cancer will lead to improved
clinical care for those carrying germline mutations in cancer predisposition genes. We …

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer
predisposition syndrome in which germline mutations in telomere biology genes account for …