Simple Summary Breast cancer is the most common cancer among women. It is estimated
that 2.3 million new cases of BC are diagnosed globally each year. Based on mRNA gene …

Genomic instability remains an enabling feature of cancer and promotes malignant
transformation. Alterations of DNA damage response (DDR) pathways allow genomic …

Importance Individuals genetically predisposed to pancreatic cancer may benefit from early
detection. Genes that predispose to pancreatic cancer and the risks of pancreatic cancer …

Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …

Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Background Germline loss-of-function mutations in PALB2 are known to confer a
predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred …

ABSTRACT A hereditary predisposition to breast cancer significantly influences screening
and follow-up recommendations for high-risk women. However, in patients with a suggestive …

Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …