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Two founder BRCA2 mutations predispose to breast cancer in young women
- Source :
- BREAST CANCER RESEARCH AND TREATMENT, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, instname, Digital.CSIC. Repositorio Institucional del CSIC
- Publication Year :
- 2009
-
Abstract
- 5 páginas, 1 figura, 1 tabla.-- et al.-- El pdf del artículo es el manuscrito de autor.<br />The mutation spectrum of BRCA1 and BRCA2 presents a wide range of unique mutations in breast/ovarian cancer patients but recurrent mutations with founder effects have also been described. BRCA2 5344delAATA and 9538delAA are recurrent mutations in Castilla-Leo´n (Spain) representing 10.6% of BRCA2 positive families. By genotyping eleven chromosome 13 markers (4.3 Mb) we demonstrate that each mutation shows core haplotypes of 1.66 and 0.87 Mb, respectively, supporting a common ancestor in Castilla-Leo´n. Furthermore, both mutations are associated with earlier onset of breast cancer (5344delAATA: 37.4 years, P = 0.033; 9538delAA: 39.4 years, P = 0.008). The identification of founder effects improves the genetic screening strategy to be followed and facilitates the clinical management of asymptomatic carriers.<br />This work has been supported by the Regional Government of Castilla y León, and grants PI061102 (Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación) and 200820I135 (Consejo Superior de Investigaciones Científicas, Ministerio de Ciencia e Innovación).
- Subjects :
- Adult
BRCA-1
Cancer Research
Heredity
DNA Mutational Analysis
Founder mutations
Breast Neoplasms
Biology
medicine.disease_cause
Risk Assessment
03 medical and health sciences
0302 clinical medicine
Breast cancer
Risk Factors
medicine
Humans
Genetic Predisposition to Disease
Age of Onset
skin and connective tissue diseases
Hereditary breast cancer
030304 developmental biology
Chromosome 13
Aged
Genetics
BRCA2 Protein
0303 health sciences
Mutation
Haplotype
Cancer
Middle Aged
BRCA1
medicine.disease
BRCA2
Founder Effect
3. Good health
Pedigree
Phenotype
Oncology
Haplotypes
Spain
030220 oncology & carcinogenesis
Female
Breast disease
Apoptosis Regulatory Proteins
Asymptomatic carrier
Founder effect
Subjects
Details
- ISSN :
- 15737217 and 01676806
- Volume :
- 122
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Breast cancer research and treatment
- Accession number :
- edsair.doi.dedup.....c13078669bcbb077235e3187483b9e10