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.
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.
Authors: Femme Harinck; Irma Kluijt; Saskia E van Mil; Quinten Waisfisz; Theo A M van Os; Cora M Aalfs; Anja Wagner; Maran Olderode-Berends; Rolf H Sijmons; Ernst J Kuipers; Jan-Werner Poley; Paul Fockens; Marco J Bruno Journal: Eur J Hum Genet Date: 2011-12-14 Impact factor: 4.246
Authors: P Ghiorzo; V Pensotti; G Fornarini; S Sciallero; L Battistuzzi; F Belli; L Bonelli; G Borgonovo; W Bruno; A Gozza; S Gargiulo; L Mastracci; S Nasti; G Palmieri; F Papadia; L Pastorino; A Russo; V Savarino; L Varesco; L Bernard; G Bianchi Scarrà Journal: Fam Cancer Date: 2012-03 Impact factor: 2.375
Authors: Xiaohong R Yang; Lea Jessop; Timothy Myers; Laufey Amundadottir; Ruth M Pfeiffer; William Wheeler; Kristen M Pike; Jeff Yuenger; Laurie Burdett; Meredith Yeager; Stephen J Chanock; Margaret A Tucker; Alisa M Goldstein Journal: Fam Cancer Date: 2011-09 Impact factor: 2.375
Authors: Ana Blanco; Miguel de la Hoya; Ana Osorio; Orland Diez; María Dolores Miramar; Mar Infante; Cristina Martinez-Bouzas; Asunción Torres; Adriana Lasa; Gemma Llort; Joan Brunet; Begoña Graña; Pedro Perez Segura; María José Garcia; Sara Gutiérrez-Enríquez; Ángel Carracedo; María-Isabel Tejada; Eladio A Velasco; María-Teresa Calvo; Judith Balmaña; Javier Benitez; Trinidad Caldés; Ana Vega Journal: PLoS One Date: 2013-07-23 Impact factor: 3.240
Authors: Lauren G Aoude; Mai Xu; Zhen Zhen Zhao; Michael Kovacs; Jane M Palmer; Peter Johansson; Judith Symmons; Jeffrey M Trent; Nicholas G Martin; Grant W Montgomery; Kevin M Brown; Nicholas K Hayward Journal: PLoS One Date: 2014-06-20 Impact factor: 3.240