Germline PALB2 mutation analysis in breast-pancreas cancer families Journal Article
| Authors: | Stadler, Z. K.; Salo-Mullen, E.; Sabbaghian, N.; Simon, J. A.; Zhang, L.; Olson, S. H.; Kurtz, R.; Offit, K.; Foulkes, W. D.; Robson, M. E.; Tischkowitz, M. |
| Article Title: | Germline PALB2 mutation analysis in breast-pancreas cancer families |
| Abstract: | Background: Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown. Methods: High Resolution Melting analysis and Multiplex Ligation-dependent Probe Amplification were performed to investigate the prevalence of PALB2 mutations in patients with either a personal history of both breast and pancreatic cancer or a personal history of breast cancer and a family history of a first degree relative with pancreatic cancer. Results: No PALB2 mutations were identified in 77 breast-pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer. Conclusion: Mutations within the PALB2 gene are rare events that do not account for a substantial proportion of cancer susceptibility in breast-pancreas cancer families. Routine screening of breast-pancreas cancer families for the presence of PALB2 mutations appears to be low yield. |
| Keywords: | unclassified drug; oncoprotein; gene mutation; major clinical study; pancreas cancer; genetic analysis; cancer susceptibility; breast cancer; prevalence; cancer screening; gene identification; genetic predisposition; genetic screening; medical history; palb2 protein; cancer family; multiplex ligation dependent probe amplification |
| Journal Title: | Journal of Medical Genetics |
| Volume: | 48 |
| Issue: | 8 |
| ISSN: | 0022-2593 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2011-08-01 |
| Start Page: | 523 |
| End Page: | 525 |
| Language: | English |
| DOI: | 10.1136/jmg.2010.087379 |
| PROVIDER: | scopus |
| PUBMED: | 21415078 |
| DOI/URL: | |
| Notes: | --- - "Export Date: 3 October 2011" - "CODEN: JMDGA" - "Source: Scopus" |
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