Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
| Autor: | John R. McLaughlin, Mohammad R. Akbari, Harvey A. Risch, Barry P. Rosen, Isabel Fan, Joanne Kotsopoulos, Steven A. Narod, Ping Sun, Victoria Sopik |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Oncology Cancer Research medicine.medical_specialty PALB2 Carcinoma Ovarian Epithelial Biology medicine.disease_cause Germline 03 medical and health sciences 0302 clinical medicine Germline mutation Mutation Rate Internal medicine Genetics medicine Humans Clinical significance Neoplasms Glandular and Epithelial Germ-Line Mutation Genetics (clinical) Exome sequencing Ontario Ovarian Neoplasms Gynecology Mutation Tumor Suppressor Proteins Nuclear Proteins Middle Aged medicine.disease Penetrance 030104 developmental biology 030220 oncology & carcinogenesis Female Fanconi Anemia Complementation Group N Protein Ovarian cancer |
| Zdroj: | Familial Cancer. 16:29-34 |
| ISSN: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-016-9919-z |
| Popis: | Recent studies suggest that mutations in the partner and localizer of BRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance of PALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations in PALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute's Exome Sequencing Project dataset. Clinical information was obtained from medical records and survival status was determined by linkage. PALB2 coding exons were sequenced using next generation sequencing technology. Of the 1421 patients, three (0.21 %) had a germline PALB2 mutation compared to two of the 4300 control subjects (0.05 %). The mean age at diagnosis was 59 years (range 55-62) and all three women died within 2 years of diagnosis. A PALB2 mutation was associated with a four-fold, albeit not significant, increased risk of ovarian cancer (OR = 4.55; 95 % CI 0.76-27.24; P = 0.10). These results suggest that germline PALB2 mutations are rare. The true effect of such mutations on ovarian cancer risk require further study before the clinical relevance of inherited PALB2 mutations is established. |
| Databáze: | OpenAIRE |
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