Associated Papers
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Fagundes GFC et al.
European Journal of Endocrinology, 2025
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA2
An activity-based functional test for identifying homologous recombination deficiencies across cancer types in real time.
Lee CY et al.
Cell Reports. Medicine, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.
Purrington KS et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
32532514 (PubMed )
Supplement: mmc1.pdf
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
Wen WX et al.
Journal of Medical Genetics, 2018
28993434 (PubMed )
Supplement: jmedgenet-2017-104947supp001.pdf
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.
Peixoto A et al.
Familial Cancer, 2006
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