Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data

TK Mukhtar, N Wilcox, J Dennis, X Yang… - Journal of Medical …, 2024 - jmg.bmj.com
Background Deleterious germline variants in ATM and CHEK2 have been associated with a
moderately increased risk of breast cancer. Risks for other cancers remain unclear. Methods …

Meta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants

TLM Ruberu, D Braun, G Parmigiani… - Genetic …, 2024 - Wiley Online Library
Multigene panel testing now allows efficient testing of many cancer susceptibility genes
leading to a larger number of mutation carriers being identified. They need to be counseled …

Genetic contribution of breast cancer genes in women of black African origin

R Ndiaye, JPD Diop, A Dem, A Dieye - Frontiers in Genetics, 2023 - frontiersin.org
Breast cancer (BC) is an increasing public health issue worldwide. BC incidence and
mortality rates are rising in transitioning countries in Africa, with the most rapid increase …

Adjusting for ascertainment bias in meta-analysis of penetrance for cancer risk

TLM Ruberu, D Braun, G Parmigiani… - arXiv preprint arXiv …, 2024 - arxiv.org
Multi-gene panel testing allows efficient detection of pathogenic variants in cancer
susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing …

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and …

T Pal, KR Schon, E Astiazaran-Symonds, J Balmaña… - Genetics in …, 2024 - Elsevier
Purpose ATM germline pathogenic variants (GPVs) are associated with a moderately
increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources …

Mosquito control exposures and breast cancer risk: analysis of 1071 cases and 2096 controls from the Ghana Breast Health Study

N Olivos, JE Banta, R Spencer-Hwang, D Ansong… - Breast Cancer …, 2023 - Springer
Epidemiologic data on insecticide exposures and breast cancer risk are inconclusive and
mostly from high-income countries. Using data from 1071 invasive pathologically confirmed …

Drivers of breast cancer and cervical cancer screening among women of reproductive age: insights from the Ghana Demographic and Health Survey

EA Anaba, SK Alor, CD Badzi, CB Mbuwir, B Muki… - BMC cancer, 2024 - Springer
Background The two major causes of cancer-related deaths among women in Ghana are
breast cancer (BC) and cervical cancer (CC). These types of cancers typically do not show …

Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer

TS Osler, JT Brandenburg, M Schoeman… - Genes …, 2024 - Wiley Online Library
Concurrent testing of numerous genes for hereditary breast cancer (BC) is available but can
result in management difficulties. We evaluated use of an expanded BC gene panel in …

Wasm-iCARE: a portable and privacy-preserving web module to build, validate, and apply absolute risk models

JB Balasubramanian, PP Choudhury… - JAMIA …, 2024 - academic.oup.com
Objectives Absolute risk models estimate an individual's future disease risk over a specified
time interval. Applications utilizing server-side risk tooling, the R-based iCARE (R-iCARE), to …

[HTML][HTML] Targeted gene panel sequencing of liquid and tissue biopsies reveals actionable genomic alterations in Ghanaian metastatic breast cancer cases

E Amoako, S Amuzu, EO Ofori, HS Akligoh… - Translational …, 2024 - Elsevier
Purpose Breast cancer is a major cause of cancer-related mortality among African women.
The adoption of molecular genomic technologies in the management of cancer cases is …