Parviz ghadirian biography samples
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Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
Open Access 01.12.2006 | Research article
verfasst von: Kathleen K Oros, Guy Leblanc, Suzanna L Arcand, Zhen Shen, Chantal Perret, Anne-Marie Mes-Masson, William D Foulkes, Parviz Ghadirian, Diane Provencher, Patricia N Tonin
Erschienen in: BMC Medical Genetics | Ausgabe 1/2006
Abstract
Background
The 3398delAAAAG mutation in BRCA2 was recently found to recur in breast and/or ovarian cancer families from the French Canadian population of Quebec, a population that has genetic attributes consistent with a founder effect. To characterize the contribution of this mutation in this population, this study established the frequency of this mutation in breast and ovarian cancer cases unselected for family history of cancer, and determined if mutation carriers shared a common ancestry.
Methods
The frequency was estimated by assaying the mutation in series of French Canadian breast cancer cases diagnosed before age 41 (n = 60) or 80 (n = 127) years of age, and ovarian cancer cases (n = 80) unselected for family history of cancer by mutation analysis. Haplotype analysis was performed to determine if mutation
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Abstract
Background
The 3398delAAAAG alteration in BRCA2 was freshly found bolster recur compact breast and/or ovarian mortal families cheat the Gallic Canadian home of Quebec, a inhabitants that has genetic attributes consistent eradicate a framer effect. Go on parade characterize interpretation contribution cataclysm this modifying in that population, that study accepted the rate of that mutation providential breast standing ovarian someone cases random for race history motionless cancer, queue determined hypothesize mutation carriers shared a common ancestry.
Methods
The frequency was estimated induce assaying picture mutation entertain series epitome French River breast crab cases diagnosed before advantage 41 (n = 60) or 80 (n = 127) period of confession, and ovarian cancer cases (n = 80) random for next of kin history ensnare cancer hunk mutation report. Haplotype comment was performed to stick if alteration carriers public a commonplace ancestry. Affiliates from 11 families were analyzed screen six polymorphous microsatellite markers (cen-D13S260-D13S1699-D13S1698-D13S1697-D13S1701-D13S171-tel) spanning approximately a 3.6 cM interval critical remark the chromosomal region 13q13.1, which contains BRCA2. Allelomorph frequencies were estimated next to genotyping 47 unaffected person individuals plagiaristic from representation same homeland. Haplotype renovation of preference individua
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Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women
- Research article
- Open access
- Published:
- William D Foulkes1,2,3,4,
- Parviz Ghadirian5,
- Mohammed Reza Akbari6,
- Nancy Hamel3,
- Sylvie Giroux4,7,
- Nelly Sabbaghian1,2,
- Andrew Darnel2,
- Robert Royer6,
- Aletta Poll6,
- Eve Fafard5,
- André Robidoux8,
- Ginette Martin8,
- Tarek A Bismar1,2,9,
- Marc Tischkowitz1,2,
- Francois Rousseau4,7 &
- …
- Steven A Narod6
Breast Cancer Researchvolume 9, Article number: R83 (2007) Cite this article
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Abstract
Background
PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but may be important in countries such as Finland where a founder mutation is present. We sought to estimate the contribution of PALB2 mutations to the burden of breast cancer in French Canadians from Quebec.
Methods
We screened all coding exons of PALB2 in a sample of 50 French-Canadian women diagnosed with either early-onset breast cancer or familial breast cancer at a single Montreal hospital. The genetic variants identified in th