PURPOSE: To describe patient, tumor, and family histories of cancer in a hospital-based cohort of patients with ovarian cancer and to identify the predictive value of these characteristics for (non)carrying a BRCA1 or BRCA2 mutation. METHODS: Women diagnosed with invasive ovarian cancer between 1999 and 2003 in the west region of The Netherlands and unselected for age at diagnosis or cancer family history were included. Information was gathered on patient and tumor characteristics; p53; HER-2/neu, and KI-67 protein-expression; BRCA1/2 mutations; and family histories of cancer. Prediction tests were constructed using multivariate analyses. RESULTS: Our study included 85 women (mean age at diagnosis, 57.6 years; standard deviation, 11.0 years). Six of these women had been previously or concurrently diagnosed with another tumor. Of the ovarian cancers, 41 (48.2%) were in an early stage (FIGO I or II). Five pathogenic mutations (6.1%) and six unclassified variants (7.3%) were identified in BRCA1/2; when the total sensitivity of the mutation scanning was taken into account, it was estimated to reflect seven pathogenic mutations (8.5%) and eight unclassified variants (9.8%). Sixty-nine women (81.2%) had at least one relative with cancer. A personal history of breast cancer and a family history of breast, ovarian, or uterine/endometrioid cancer were found to predict the presence of pathogenic mutations. CONCLUSION: As the combination of a personal history of breast cancer and a family history of breast, ovarian, or uterine/endometrioid cancer had good predictive value for the presence of a pathogenic BRCA1/2 mutation, the presented prediction test is a useful instrument to identify those women eligible for DNA testing.
PURPOSE: To describe patient, tumor, and family histories of cancer in a hospital-based cohort of patients with ovarian cancer and to identify the predictive value of these characteristics for (non)carrying a BRCA1 or BRCA2 mutation. METHODS: Women diagnosed with invasive ovarian cancer between 1999 and 2003 in the west region of The Netherlands and unselected for age at diagnosis or cancer family history were included. Information was gathered on patient and tumor characteristics; p53; HER-2/neu, and KI-67 protein-expression; BRCA1/2 mutations; and family histories of cancer. Prediction tests were constructed using multivariate analyses. RESULTS: Our study included 85 women (mean age at diagnosis, 57.6 years; standard deviation, 11.0 years). Six of these women had been previously or concurrently diagnosed with another tumor. Of the ovarian cancers, 41 (48.2%) were in an early stage (FIGO I or II). Five pathogenic mutations (6.1%) and six unclassified variants (7.3%) were identified in BRCA1/2; when the total sensitivity of the mutation scanning was taken into account, it was estimated to reflect seven pathogenic mutations (8.5%) and eight unclassified variants (9.8%). Sixty-nine women (81.2%) had at least one relative with cancer. A personal history of breast cancer and a family history of breast, ovarian, or uterine/endometrioid cancer were found to predict the presence of pathogenic mutations. CONCLUSION: As the combination of a personal history of breast cancer and a family history of breast, ovarian, or uterine/endometrioid cancer had good predictive value for the presence of a pathogenic BRCA1/2 mutation, the presented prediction test is a useful instrument to identify those women eligible for DNA testing.
Authors: Kathryn Alsop; Sian Fereday; Cliff Meldrum; Anna deFazio; Catherine Emmanuel; Joshy George; Alexander Dobrovic; Michael J Birrer; Penelope M Webb; Colin Stewart; Michael Friedlander; Stephen Fox; David Bowtell; Gillian Mitchell Journal: J Clin Oncol Date: 2012-06-18 Impact factor: 44.544
Authors: Nicky Dekker; Eleonora B L van Dorst; Rob B van der Luijt; Marielle E van Gijn; Marc van Tuil; Johan A Offerhaus; Margreet G E M Ausems Journal: J Genet Couns Date: 2012-11-30 Impact factor: 2.537
Authors: Bernadette A M Heemskerk-Gerritsen; Antoinette Hollestelle; Christi J van Asperen; Irma van den Beek; Willemien J van Driel; Klaartje van Engelen; Encarna B Gómez Garcia; Joanne A de Hullu; Marco J Koudijs; Marian J E Mourits; Maartje J Hooning; Ingrid A Boere Journal: PLoS One Date: 2022-09-22 Impact factor: 3.752
Authors: Evgeny N Suspitsin; Nathalia Yu Sherina; Daria N Ponomariova; Anna P Sokolenko; Aglaya G Iyevleva; Tatyana V Gorodnova; Olga A Zaitseva; Olga S Yatsuk; Alexandr V Togo; Nathalia N Tkachenko; Grigory A Shiyanov; Oksana S Lobeiko; Nadezhda Yu Krylova; Dmitry E Matsko; Sergey Ya Maximov; Adel F Urmancheyeva; Nathalia V Porhanova; Evgeny N Imyanitov Journal: Hered Cancer Clin Pract Date: 2009-02-25 Impact factor: 2.857