Abstract
A comprehensive family history is essential to identify patients at risk for hereditary cancer who could benefit from genetic counseling (GC). In a previous study, we observed a low occurrence of family history record (FHR) collection rate and GC referral among oncologists at our institution. The present work analyzes whether the implementation of a heredofamilial cancer unit (HFCU) would improve these parameters. We retrospectively compared the FHR rate in clinical records, National Cancer Institute (NCI) general criteria for hereditary cancer suspicion, GC referrals and FHR quality in two cohorts: cohort 1 (patients diagnosed before HFCU creation) and cohort 2 (after HFCU creation). Of 1,175 patients (590 cohort 1 and 585 cohort 2), FHRs were consigned in 27.3 % and 52.5 % of patients, respectively (p < 0.001). The GC referral of patients with any NCI criterion was 13.6 % xin cohort 1 vs. 40.5 % in cohort 2 (p < 0.001). FHR quality improved in terms of the total number of relatives (164 vs. 314, p = 0.1, N.S.) and number of healthy relatives consigned (80 vs. 191, p < 0.01). Nine mutations (6 BRCA, 1 MEN1, 2 Lynch), 4 unknown significance variants (all in BRCA) and 2 with no mutation were identified among patients referred from cohort 2. We conclude that the creation of a heredofamilial cancer unit has changed both FHR and GC referrals among oncologists at our institution, although continuous educational efforts are required.
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Acheson, L. S., Wiesner, G. L., Zyzanski, S. J., Goodwin, M. A., & Stange, K. C. (2000). Family history-taking in community family practice: implications for genetic screening. Genetics in Medicine, 2(3), 180–185.
Audeh, M. W., Carmichael, J., Penson, R. T., Friedlander, M., Powell, B., Bell-McGuinn, K. M., et al. (2010). Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet, 376(9737), 245–251.
Bartsch, D. K., Gress, T. M., & Langer, P. (2012). Familial pancreatic cancer-current knowledge. Nature Reviews. Gastroenterology & Hepatology, 9(8), 445–453.
Byrski, T., Huzarski, T., Dent, R., Gronwald, J., Zuziak, D., Cybulski, C., et al. (2009). Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Research and Treatment, 115(2), 359–363.
Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., et al. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA : The Journal of the American Medical Association, 304(9), 967–975.
Gala, M., & Chung, D. C. (2011). Hereditary colon cancer syndromes. Seminar in Oncology, 38(4), 490–499.
Garber, J. E., & Offit, K. (2005). Hereditary cancer predisposition syndromes. Journal of Clinical Oncology, 23(2), 276–292.
Jarvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomaki, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118(5), 829–834.
Lindor, N. M., McMaster, M. L., Lindor, C. J. and Greene, M. H. (2008). “Concise handbook of familial cancer susceptibility syndromes - second edition.” Journal of the National Cancer Institute Monographs (38): 1–93.
Marquez-Rodas, I., Lopez-Trabada, D., Ruperez Blanco, A. B., Custodio Cabello, S., Peligros Gomez, M. I., Orera Clemente, M., et al. (2012). Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study. Oncology, 82(1), 30–34.
Mukherjee, B., Delancey, J. O., Raskin, L., Everett, J., Jeter, J., Begg, C. B., et al. (2012). Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers. Journal of the National Cancer Institute, 104(12), 953–956.
Pal, T., Permuth-Wey, J., Betts, J. A., Krischer, J. P., Fiorica, J., Arango, H., et al. (2005). BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer, 104(12), 2807–2816.
Raue, F., & Frank-Raue, K. (2010). Update multiple endocrine neoplasia type 2. Familial Cancer, 9(3), 449–457.
SEOM (2012). “Cancer in Spain 2012.” from http://www.seom.org/es/prensa/el-cancer-en-espanyacom/.
Sweet, K. M., Bradley, T. L., & Westman, J. A. (2002). “Identification and referral of families at high risk for cancer susceptibility.” J Clin Oncol 20(2), 528–537.
Trepanier, A., Ahrens, M., McKinnon, W., Peters, J., Stopfer, J., Grumet, S. C., et al. (2004). Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 13(2), 83–114.
Weitzel, J. N., Lagos, V. I., Cullinane, C. A., Gambol, P. J., Culver, J. O., Blazer, K. R., et al. (2007). Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA : The Journal of the American Medical Association, 297(23), 2587–2595.
Weitzel, J. N., Blazer, K. R., Macdonald, D. J., Culver, J. O. and Offit, K. (2011). “Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.” CA Cancer Journal for Clinicians.
Wood, M., Kadlubek, P., Lu, K.H. Wollins., Weitzel, JN., Neuss, MN., & Hughes, KS. (2012). “Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI)”. J Clin Oncol 30 (suppl; abstr CRA1505).
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The authors have no conflict of interest. Yolanda Jerez was recipient of a grant by Fundación de Investigación Biomédica Gregorio Marañón during the performance of the study. Editorial assistance was provided by an independent style corrector funded by Merck Serono. The authors retained full control of the manuscript’s content.
The data were previously presented, as a preliminary analysis, in the 37th ESMO 2012 Congress (September 30th, abstract 517p) Ann Oncol (2012) 23 (suppl 9): ix175–ix177.
Due to the retrospective nature of the study, and since the data had been anonymized, our IRB deemed it unnecessary to review this study.
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Márquez-Rodas, I., López-Tarruella, S., Jerez, Y. et al. Evaluation of a Heredofamilial Cancer Unit in Increasing Family History Collection and Genetic Counseling Referrals Among Spanish Oncologists at a University Hospital. J Genet Counsel 23, 108–113 (2014). https://doi.org/10.1007/s10897-013-9617-z
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DOI: https://doi.org/10.1007/s10897-013-9617-z