Bardet-Biedl syndrome (BBS) is a ciliopathy that leads to progressive blindness due to degeneration of cone photoreceptors, but the mechanisms behind this are not well understood. The syndrome is ...

Genetic and genomic testing guide breast cancer risk assessment and treatment, as discussed by Dr. Mark Robson at the Miami ...

Ciara Foskin’s diagnosis came out of the blue. She is part of a small cohort of women under 50 who develop triple-negative ...

Scientists identified 195 genetic risk loci across 42 female reproductive health conditions, revealing shared genetic ...

Event to be held via webcast on March 25, 2025 at 4:00 p.m. ET To highlight differentiated drug discovery capabilities with ...

it caused arrest at the G1 phase via the ATM/Chk2 pathway. This was accompanied by downregulation of key cell cycle proteins such as CDK2, Cyclin A2, CDK4/6, and Cyclin D1/E1 complexes.

Of those tested for CHEK2 (122), for Lynch (69), or for RAD51C/D (15) genetic mutations, none were found. Somatic test results were available for 280 men whose cancer had spread elsewhere.

SESAUA annual meeting featured a kidney cancer session and a presentation by Dr. Robert Smith discussing how age and tumor ...

After her Stage 4 terminal cancer diagnosis, Lane found out she has a CHEK2 gene mutation – one that causes a moderate risk of breast cancer. "Go get that genetic testing. If you have it or not ...

Other gene mutations like PALB2, TP53, and CHEK2 also contribute, though less commonly. Women who have a close family member (mother, sister, daughter) who had breast cancer are at an increased risk.