Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
| Autor: | Johanna Schleutker, K. Parto, Robert Winqvist, Veli-Matti Kosma, Anne Kallioniemi, Marketta Kähkönen, Arto Mannermaa, Kristiina Avela, Katri Pylkäs, Satu-Leena Laasanen, Tuomo Mantere, Maria Haanpää, H. Hanenberg, Kristiina Aittomäki, Jaana M. Hartikainen, H. Von Koskull |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Oncology medicine.medical_specialty Adolescent PALB2 Breast Neoplasms ta3111 medicine.disease_cause Prostate cancer Breast cancer Fanconi anemia Internal medicine Genetics medicine Humans Genetic Testing Child Fanconi Anemia Complementation Group G Protein Finland Genetics (clinical) Aged Mutation Fanconi Anemia Complementation Group A Protein business.industry BRIP1 Prostatic Neoplasms Cancer Middle Aged ta3122 medicine.disease Fanconi Anemia Complementation Group Proteins Complementation Fanconi Anemia Child Preschool Female business |
| Zdroj: | Clinical Genetics. 88:68-73 |
| ISSN: | 0009-9163 |
| Popis: | Mutations in downstream Fanconi anemia (FA) pathway genes, BRCA2, PALB2, BRIP1 and RAD51C, explain part of the hereditary breast cancer susceptibility, but the contribution of other FA genes has remained questionable. Due to FA's rarity, the finding of recurrent deleterious FA mutations among breast cancer families is challenging. The use of founder populations, such as the Finns, could provide some advantage in this. Here, we have resolved complementation groups and causative mutations of five FA patients, representing the first mutation confirmed FA cases in Finland. These patients belonged to complementation groups FA-A (n = 3), FA-G (n = 1) and FA-I (n = 1). The prevalence of the six FA causing mutations was then studied in breast (n = 1840) and prostate (n = 565) cancer cohorts, and in matched controls (n = 1176 females, n = 469 males). All mutations were recurrent, but no significant association with cancer susceptibility was observed for any: the prevalence of FANCI c.2957_2969del and c.3041G>A mutations was even highest in healthy males (1.7%). This strengthens the exclusive role of downstream genes in cancer predisposition. From a clinical point of view, current results provide fundamental information of the mutations to be tested first in all suspected FA cases in Finland. |
| Databáze: | OpenAIRE |
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