INTRODUCTION: Whether and to what extent germline mutations in the BRCA1 and BRCA2 genes increase the risk for developing uterine serous carcinoma (USC) remain controversial. We assessed the rate of the 3 predominant BRCA1/2 mutations in Jewish patients with USC and the relevance of carrier status to clinicopathological features and survival. METHODS: Jewish patients with histologically confirmed USC diagnosed between April 1997 and December 2007 were genotyped for the 3 predominant BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations. Clinical characteristics were abstracted from the patients' medical records. The Kaplan-Meier method and log-rank tests were used for survival analyses. RESULTS: Overall, 8 (25.8%) of 31 Jewish patients with USC who participated in the study were mutation carriers: 4 were BRCA2 (6174delT) carriers and 2 each carried the BRCA1 mutations (185delAG and 5382insC). The median ages of the carriers and the noncarriers were 66 and 74 years, respectively (P = 0.124). Four (50%) of the mutation carriers and 2 (8%) of the noncarriers had a family history of breast-ovarian cancer (P = 0.026). With a median follow-up of 76 months, the overall median survival time was 25 months. No significant differences in the median survival time, 2-year survival, or progression-free survival were noted between the mutation carriers and the noncarriers. CONCLUSIONS: The high rate of the predominant BRCA1/2 mutations in unselected Jewish USC patients, if confirmed by future studies, suggests that USC could be considered an expression of the hereditary breast-ovarian cancer syndrome.
INTRODUCTION: Whether and to what extent germline mutations in the BRCA1 and BRCA2 genes increase the risk for developing uterine serous carcinoma (USC) remain controversial. We assessed the rate of the 3 predominant BRCA1/2 mutations in Jewish patients with USC and the relevance of carrier status to clinicopathological features and survival. METHODS: Jewish patients with histologically confirmed USC diagnosed between April 1997 and December 2007 were genotyped for the 3 predominant BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations. Clinical characteristics were abstracted from the patients' medical records. The Kaplan-Meier method and log-rank tests were used for survival analyses. RESULTS: Overall, 8 (25.8%) of 31 Jewish patients with USC who participated in the study were mutation carriers: 4 were BRCA2 (6174delT) carriers and 2 each carried the BRCA1 mutations (185delAG and 5382insC). The median ages of the carriers and the noncarriers were 66 and 74 years, respectively (P = 0.124). Four (50%) of the mutation carriers and 2 (8%) of the noncarriers had a family history of breast-ovarian cancer (P = 0.026). With a median follow-up of 76 months, the overall median survival time was 25 months. No significant differences in the median survival time, 2-year survival, or progression-free survival were noted between the mutation carriers and the noncarriers. CONCLUSIONS: The high rate of the predominant BRCA1/2 mutations in unselected Jewish USC patients, if confirmed by future studies, suggests that USC could be considered an expression of the hereditary breast-ovarian cancer syndrome.
Authors: Summer B Dewdney; Nora T Kizer; Abegail A Andaya; Sheri A Babb; Jingqin Luo; David G Mutch; Amy P Schmidt; Louise A Brinton; Russell R Broaddus; Nilsa C Ramirez; Phyllis C Huettner; Donald Scott McMeekin; Kathleen Darcy; Shamshad Ali; Patricia L Judson; Robert S Mannel; Shashikant B Lele; David M O'Malley; Paul J Goodfellow Journal: Cancer Prev Res (Phila) Date: 2012-01-13
Authors: Murray Joseph Casey; Chhanda Bewtra; Henry T Lynch; Carrie Snyder; Mark Stacy; Patrice Watson Journal: Fam Cancer Date: 2013-12 Impact factor: 2.375
Authors: Catherine A Shu; Malcolm C Pike; Anjali R Jotwani; Tara M Friebel; Robert A Soslow; Douglas A Levine; Katherine L Nathanson; Jason A Konner; Angela G Arnold; Faina Bogomolniy; Fanny Dao; Narciso Olvera; Elizabeth K Bancroft; Deborah J Goldfrank; Zsofia K Stadler; Mark E Robson; Carol L Brown; Mario M Leitao; Nadeem R Abu-Rustum; Carol A Aghajanian; Joanne L Blum; Susan L Neuhausen; Judy E Garber; Mary B Daly; Claudine Isaacs; Rosalind A Eeles; Patricia A Ganz; Richard R Barakat; Kenneth Offit; Susan M Domchek; Timothy R Rebbeck; Noah D Kauff Journal: JAMA Oncol Date: 2016-11-01 Impact factor: 31.777