Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S et al.
The Journal of International Medical Research, 2022
35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf
Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
Dobričić J et al.
Journal of Human Genetics, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation
Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.
De Silva W et al.
Bmc Cancer, 2008
Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
Beristain E et al.
Breast Cancer Research and Treatment, 2007
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
Multiple fibroadenomas harbouring carcinoma in situ in a woman with a family history of breast/ovarian cancer.
Kuijper A et al.
Journal of Clinical Pathology, 2002
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Gross E et al.
Human Mutation, 2000
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers.
Arnold N et al.
Human Mutation, 1999
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC.
Gross E et al.
Human Genetics, 0
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