Associated Papers
Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.
Jiang Z et al.
Future Science Oa, 2025
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
Heramb C et al.
Hereditary Cancer in Clinical Practice, 2018
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Jara L et al.
Biological Research, 2017
28985766 (PubMed )
Supplement: 40659_2017_139_MOESM1_ESM.xlsx › TABLE_I
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
Blay P et al.
Bmc Cancer, 2013
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Select a paper to view details