Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
| Autor: | Elaine F. Harkness, Sacha J Howell, Fiona Lalloo, Jamie M Ellingford, Miriam J. Smith, Anthony Howell, D. Gareth Evans, Helene Schlech, William G. Newman, George J Burghel, Claire Forde, Helen Byers, Naomi L. Bowers, Elke M van Veen, Emma R. Woodward, Andrew J Wallace |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty PALB2 Breast Neoplasms Gastroenterology Article 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine medicine Odds Ratio Humans In patient Genetic Predisposition to Disease skin and connective tissue diseases CHEK2 Triple negative Genetics (clinical) Ovarian Neoplasms business.industry Carcinoma in situ Odds ratio medicine.disease Checkpoint Kinase 2 030104 developmental biology 030220 oncology & carcinogenesis Female Ovarian cancer business Fanconi Anemia Complementation Group N Protein |
| Zdroj: | Genetics in Medicine |
| ISSN: | 1530-0366 1098-3600 |
| Popis: | PURPOSE To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology. METHODS Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or epithelial nonmucinous ovarian cancer, and 1,567 female controls. Breast cancer pathology was recorded in PALB2_PGV cases from extended families. RESULTS Thirty-five PALB2 and 44 CHEK2_1100delC PGVs were detected in patients (odds ratio [OR] PALB2 breast-ovarian = 5.90 [95% CI: 1.92-18.36], CHEK2 breast-ovarian = 4.46 [95% CI: 1.86-10.46], PALB2 breast = 6.16 [95% CI: 1.98-19.21], CHEK2 breast = 4.89 [95% CI: 2.01-11.34]). Grade 3 ER-positive HER2-negative, grade 3 and triple negative (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers known to our service (respectively: 15/43, 254/1,843, P = 0.0005; 28/37, 562/1,381, P = 0.0001; 12/43, 204/1,639, P |
| Databáze: | OpenAIRE |
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