Title |
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada
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Published in |
Hereditary Cancer in Clinical Practice, August 2014
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DOI | 10.1186/1897-4287-12-19 |
Pubmed ID | |
Authors |
Taila Hartley, Luca Cavallone, Nelly Sabbaghian, Rachel Silva-Smith, Nancy Hamel, Olga Aleynikova, Erika Smith, Valerie Hastings, Pedro Pinto, Marc Tischkowitz, Eva Tomiak, William D Foulkes |
Abstract |
PALB2 has emerged as a breast cancer susceptibility gene. Mutations in PALB2 have been identified in almost all breast cancer populations studied to date, but the rarity of these mutations and lack of information regarding their penetrance makes genetic counseling for these families challenging. We studied BRCA1/2 -negative breast and/or ovarian cancer families to a) assess the contribution of PALB2 mutations in this series and b) identify clinical, pathological and family history characteristics that might make PALB2 screening more efficient. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 25% |
United States | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 37 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 10 | 27% |
Student > Ph. D. Student | 8 | 22% |
Student > Master | 6 | 16% |
Other | 2 | 5% |
Student > Doctoral Student | 1 | 3% |
Other | 5 | 14% |
Unknown | 5 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 30% |
Biochemistry, Genetics and Molecular Biology | 9 | 24% |
Agricultural and Biological Sciences | 9 | 24% |
Social Sciences | 1 | 3% |
Neuroscience | 1 | 3% |
Other | 1 | 3% |
Unknown | 5 | 14% |