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

The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly
in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical …

PURPOSE To develop recommendations for management of patients with breast cancer
(BC) with germline mutations in BC susceptibility genes. METHODS The American Society …

The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk
Assessment: Breast and Ovarian provide recommendations for genetic testing and …

Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR
genes are established cancer susceptibility genes with clinically actionable pathogenic …

Breast cancer risk associated with germline likely pathogenic/pathogenic variants (PV)
varies by gene, often by penetrance (high> 50% or moderate 20–50%), and specific locus …

Improvements in early detection, supportive care, and treatment have resulted in an
increasing number of cancer survivors, with a current 5-year relative survival rate for all …

Second and higher-order malignancies now comprise about 18% of all incident cancers in
the USA, superseding first primary cancers of the breast, lung, and prostate. The occurrence …

Worldwide, breast cancer is the leading cause of cancer-related deaths in women. Breast
cancer is a heterogeneous disease characterized by different clinical outcomes in terms of …

Ataxia‐telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with
immunodeficiency and an increased risk of developing cancer, caused by mutations in the …