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
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
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM3_ESM.xlsx › PrimaryRecurrent_cohort_tumors
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.
Apostolou P et al.
International Journal of Cancer, 2020
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-s007.xlsx › Latino
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Gabaldó Barrios X et al.
Familial Cancer, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J et al.
Breast Cancer Research and Treatment, 2015
26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
Blay P et al.
Bmc Cancer, 2013
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M et al.
Breast Cancer Research and Treatment, 2010
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