The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Major Genes

Added text to state that mutations in BRCA1 are associated with early-onset breast cancer, ovarian cancer, and fallopian tube cancer, and may also be associated with male breast cancer, pancreatic cancer, testicular cancer, and early-onset prostate cancer (cited Brose et al., Thompson et al., Risch et al., and Tai et al. as references 6, 7, 8, and 9, respectively).

Added Liede et al. as reference 13.

Added Katki et al. as reference 91.

Added Crum et al. as reference 182.

Added text to state that a study of Ashkenazi Jewish women with ovarian cancer with BRCA mutations had a longer median time to recurrence and an overall improved survival as compared with Ashkenazi Jewish women with ovarian cancer without a BRCA mutation. Another study showed improvement in overall survival in BRCA2, but not in BRCA1, carriers (cited Boyd et al. and Pal et al. as references 190 and 191, respectively).

Added text to state that several studies, including a U.K. study, have not found improved overall survival among ovarian cancer patients with BRCA mutations (cited Pharoah et al. as reference 193).

Low Penetrance Predisposition to Breast and Ovarian Cancer

Added text to state that a recent meta-analysis of 1100delC mutation carriers estimated the risk of breast cancer, but the clinical applicability of this finding remains uncertain (cited Weischer et al. and Offit et al. as references 27 and 28, respectively).

Added text to state that several genome-wide studies clearly replicated the FGFR2 and TNRC9 loci and pointed to additional susceptibility loci at 6q22.33 (cited Gold et al. as reference 63).

Interventions

Added Lehman et al. as reference 29, Sardanelli et al. as reference 30, Lord et al. as reference 31, Shanley et al. as reference 111, and Collaborative Group on Epidemiological Studies of Ovarian Cancer et al. as reference 146.

Added text to state that a study suggests a causal relationship between early tubal carcinoma and subsequent invasive serous carcinoma of the fallopian tube, ovary or peritoneum (cited Kindelberger et al. as reference 163).

Added text on several studies that examined whether BRCA1 or BRCA2 mutation carriers are at increased risk of endometrial cancer (cited Thompson et al., Lavie et al., Levine et al., Goshen et al., and Beiner et al. as references 164, 165, 166, 167 and 168, respectively).

Psychosocial Issues in Inherited Breast Cancer Syndromes

Added text to state that in a study of women with an uncertain test result there were no differences in BRCAPRO scores, age at time of genetic testing, number of children, or number of siblings between individuals who pursued additionalBRCA1 and BRCA2 mutation testing and those who declined.

Added Reichelt et al. as reference 81.

Added text about a subset of women who were assessed for cancer-related worry, general mental health, and risk-management behaviors 3 years post-genetic test result disclosure (cited Foster et al. as reference 84).

Added text about a study of 187 mothers undergoing BRCA1/2 testing that evaluated their need for resources to prepare for a facilitated conversation about sharing their results with their children (cited Bradbury et al. as referencce 115).

Added text about a Canadian study that assessed 59 spouses of women found to have a BRCA1/2 mutation (cited Metcalfe et al. as reference 119).

Added text about a U.S. study that surveyed 118 partners of women undergoing genetic testing for mutations in BRACA 1/ 2.

Added text about a multicenter U.K. cohort study that examined the distress levels of 193 men following BRCA1/2 testing (cited Foster et al. as reference 84).

Added text to state that the U.K. Human Fertilization and Embryology authority has approved the use of preimplantation genetic diagnosis for hereditary breast and ovarian cancer (cited Menon et al. as reference 140).

Added text to state that there is a growing body of literature on the use of decision aids as an adjunct to standard genetic counseling to assist patients in making informed decisions about cancer risk management (cited van Roosmalen et al., Tiller et al., and Metcalfe et al. as references 154, 155, and 156, respectively).

Added text to state that a prospective study from the U.K. examined the psychological impact of mammographic screening in women with family history of breast cancer (cited Tyndel et al. as reference 182).

Added text to state that not all studies specify whether screening uptake rates fall within recommended guidelines, nor do they report on other variables that may influence cancer screening recommendations.

Added text to state that a prospective study from the Netherlands evaluated long-term psychological outcomes of offering women with breast cancer genetic counseling (cited Schlich-Bakker et al. as reference 190).

Added text about a study of psychosocial outcomes associated with risk-reducing mastectomy (RRM) and immediate reconstruction in high-risk women (cited Isern et al. as reference 194).

Added text about a qualitative study examining material on the Facing Our Risk of Cancer Empowered (FORCE) Web site posted by 21 high-risk women undergoing RRM (cited Kenen et al. as reference 195).

Added text text on a study that examined long-term psychosocial outcomes in women who had had bilateral or contralateral RRM (cited Altschuler et al. as reference 196).

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