Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and
increased risk for malignancy. Physical abnormalities, present in approximately 75% of …

Partner and Localizer of BRCA2 (PALB2) has emerged as an important and versatile player
in genome integrity maintenance. Biallelic mutations in PALB2 cause Fanconi anemia (FA) …

The CDKs are known to play a critical role in cell cycle regulation process. Among the
different groups of CDKs, CDK4 overexpression/hyperactivation is found to be present in …

Overexpression and/or hyperactivation of cyclin-dependent kinase 4 (CDK4) has been
found in many types of human cancers, and a CDK4 specific inhibitor, palbociclib, has been …

PALB2 loss‐of‐function variants confer high risk of developing breast cancer. Here we
present a systematic functional analysis of PALB2 splice‐site variants detected in …

Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the
BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination …

Abstract The Carolina Breast Cancer Study (CBCS) phases I–II was a case-control study of
biological and social risk factors for invasive breast cancer that enrolled cases and controls …

Background PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer
risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk …

Fanconi anemia (FA) has long been considered a severe inherited bone marrow failure
(BMF) disorder of early childhood. Thus, management of this multisystem disorder has …

Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and a
cancer predisposition disorder. Cancers in FA include acute leukemia and solid tumors; the …