Associated Papers
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report.
Scherz A et al.
The Application of Clinical Genetics, 2023
Evidence for accelerated aging in mammary epithelia of women carrying germline BRCA1 or BRCA2 mutations.
Shalabi SF et al.
Nature Aging, 2021
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
Incorvaia L et al.
Therapeutic Advances in Medical Oncology, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
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
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
Churpek JE et al.
Cancer, 2016
DiMeX: A Text Mining System for Mutation-Disease Association Extraction.
Mahmood AS et al.
Plos One, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
Miele E et al.
Biomarker Research, 2015
Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.
Kang PC et al.
Breast Cancer Research and Treatment, 2014
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations.
Conner JR et al.
Gynecologic Oncology, 2014
Hereditary breast cancer in the Han Chinese population.
Cao W et al.
Journal of Epidemiology, 2013
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
Finkelman BS et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2012
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
Garcia-Casado Z et al.
Bmc Medical Genetics, 2011
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Biswas K et al.
Blood, 2011
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.
Infante M et al.
Clinical Genetics, 2010
Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.
Dewire MD et al.
Pediatric Blood & Cancer, 2009
Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.
Marshall M et al.
Clinical Genetics, 2009
Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma.
Akbari MR et al.
Oncogene, 2008
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.
Rodriguez RC et al.
Familial Cancer, 2008
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
Alter BP et al.
Journal of Medical Genetics, 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
Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.
Barber LM et al.
British Journal of Haematology, 2005
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.
Meyer S et al.
Genes, Chromosomes & Cancer, 2005
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
Reid S et al.
Journal of Medical Genetics, 2005
BRCA1 and BRCA2 mutations in women from Shanghai China.
Suter NM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004
Cancer variation associated with the position of the mutation in the BRCA2 gene.
Lubinski J et al.
Familial Cancer, 2004
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
Offit K et al.
Journal of the National Cancer Institute, 2003