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Germline PALB2 mutation analysis in breast–pancreas cancer families
  1. Zsofia K Stadler1,
  2. Erin Salo-Mullen1,
  3. Nelly Sabbaghian2,3,
  4. Jennifer A Simon4,
  5. Liying Zhang5,
  6. Sara H Olson4,
  7. Robert Kurtz1,
  8. Kenneth Offit1,
  9. William D Foulkes2,3,6,
  10. Mark E Robson1,
  11. Marc Tischkowitz2,3
  1. 1Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
  2. 2Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
  3. 3Segal Cancer Centre, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
  4. 4Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
  5. 5Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
  6. 6The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada
  1. Correspondence to Dr Zsofia K Stadler, Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue New York, NY 10065, USA; stadlerz{at}mskcc.org

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.

  • Genetic predisposition to disease
  • PALB2
  • breast cancer
  • pancreatic cancer
  • clinical genetics
  • oncology
  • cancer: breast
  • other oncology

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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.

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Footnotes

  • Funding This work was supported by the Susan G Komen Foundation for the Cure, and the Jewish General Hospital Weekend to End Breast Cancer. We also acknowledge support from the Breast Cancer Research Foundation, Taub Family Research Initiative, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, and the Lymphoma Foundation. WDF holds a Fonds de la Recherche en Santé du Québec (FRSQ) national scientist award, MT holds a FRSQ clinician-scientist award, and ZKS is an ASCO Cancer Foundation CDA recipient.

  • Competing interests None declared.

  • Ethics approval This study was conducted with the approval of the Memorial Sloan-Kettering Cancer Center.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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