BRCA1 germline mutations in women with uterine serous papillary carcinoma

Lavie, Ofer; Hornreich, Gila; Arie, Alon Ben; Renbaum, Paul; Levy-Lahad, Ephrat; Beller, Uziel

doi:10.1016/s0029-7844(00)00851-6

Cited by 36 publications

(11 citation statements)

References 21 publications

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“…However, in this study, 11% of women with UPSC also had a personal history of breast cancer and 29% reported a first-degree relative with breast cancer [34]. Further elucidation into this potential association is of value as it would impact recommendations made regarding risk-reducing surgery, supporting hysterectomy at the time of prophylactic salpingo-oophorectomy [37].…”

Section: Epidemiologymentioning

confidence: 95%

“…In the National Surgical Adjuvant Breast and Bowel Project Breast Cancer Prevention Trial, the largest of these studies, there was no association noted between tamoxifen use and USPC [28,29,[31][32][33]. Several studies have hypothesized a connection between hereditary breastovarian cancer syndrome and UPSC [34][35][36][37]. In a study of 20 Ashkenazi Jewish women with UPSC, 4 were carries of the BRCA genetic mutation, 7 had a personal history of breast cancer and 12 had at least one first-degree relative with either ovarian, breast or colon cancer [36].…”

Section: Epidemiologymentioning

confidence: 99%

“…Several studies have described an association between UPSC and hereditary breast-ovarian cancer syndromes [36][37][38][39][40]. This link would change recommendations regarding prophylactic surgery and likely lead to consideration of concomitant hysterectomy at the time of risk reducing bilateral salpingo-oophorectomy [21,40].…”

Section: Epidemiologymentioning

confidence: 99%

See 2 more Smart Citations

Uterine papillary serous cancer: A review of the literature

Carmen

Birrer

Schorge

2012

Gynecologic Oncology

117

130

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Section: Epidemiologymentioning

confidence: 95%

Section: Epidemiologymentioning

confidence: 99%

See 1 more Smart Citation

Uterine papillary serous cancer: A review of the literature

Carmen

Birrer

Schorge

2012

Gynecologic Oncology

117

130

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“…Besides finding excessive numbers of male breast cancer (six cases) in six families carrying BRCA2 mutations, Schubert et al also reported two cases of prostate cancer, two cases of bladder cancer, three cases of pancreatic cancer and two cases of fallopian tube carcinoma linked with BRCA1 and BRCA2 mutations [15]. If further investigations confirm the genetic evidence reported by Lavie et al linking uterine papillary serous carcinoma with germline BRCA1 mutations, this disease, too, may prove to be within the spectrum of cancers associated with the HBOC syndrome [121,127] The history of hereditary cancer research has been a history of progressive unveiling of tumor heterogeneity in families that transmit genetic susceptibility.…”

Section: Pathological Considerationsmentioning

confidence: 85%

Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations

Casey

Bewtra

2004

Familial Cancer

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Women from families with multiple cases of breast and ovarian cancer, specifically those who carry cancer-associated mutations of BRCA1 or BRCA2 are at increased life-time risk for peritoneal carcinoma, even after previous surgery to remove the ovaries, fallopian tubes and uterus. Hereditary breast-ovarian cancer (HBOC) syndrome and the associated BRCA1 and BRCA2 mutations are particularly prevalent in women of Jewish lineage, and specific BRCA1 and BRCA2 germline mutations have been linked with peritoneal carcinoma and HBOC syndrome in Jewish populations, especially those of Ashkenazi descent. This review presents the currently available data and looks forward toward further and better understanding of peritoneal carcinoma in women with inherited susceptibility. Over 90% of peritoneal cancer in patients from HBOC syndrome kindreds and associated with BRCA1 and BRCA2 mutations are serous carcinomas, which is equivalent with the proportion of ovarian cancers that are serous carcinomas in similar patients. The best indications are that while many peritoneal carcinomas in genetically susceptible women may arise directly from malignant transformation of the peritoneum, others might represent metastases from primary ovarian or fallopian tube carcinomas. Although the incidence of borderline ovarian tumors may not be increased in HBOC syndrome kindreds and those who carry cancer-associated BRCA1 and BRCA2 mutations, these individuals could be susceptible to malignant transformation of borderline lesions of the ovaries and peritoneum. Moreover, recent reports raise the question of possibly increased risk in Jewish carriers of germline BRCA1 mutations for uterine papillary serous carcinoma, which could be the source of metastasis to the peritoneum in some cases. The penetrance of cancer-associated BRCA1 mutations for ovarian cancer is estimated to be 11%-54%, and for BRCA2 mutations the penetrance for ovarian cancer is 11%-23%. So far, available screening methods appear to be insufficient for early detection of many ovarian cancers. Prophylactic oophorectomy has been found to reduce the risk for ovarian cancer in women from HBOC kindreds and those who carry cancer-associated BRCA1 and BRCA2 mutations, leaving a residual risk for peritoneal carcinomatosis of well less than 5%. Therefore, surgical removal of the ovaries, fallopian tubes and uterus, after child-bearing has been completed and by early in the fifth decade of life, are appropriate prophylactic procedures in women whose genetic susceptibility puts them at increased risk for cancers of mullerian tract origin, including ovarian and fallopian tube carcinomas and possibly serous carcinoma of the uterus. Hysterectomy, as well as salpingo-oophorectomy, removes the gynecologic organs targeted for malignant transformation in genetically susceptible women and simplifies decisions regarding hormone replacement therapy and chemical prophylaxis and treatment of breast cancer. Unless a transabdominal operative approach is otherwise indicated, laparoscopic-assisted transvagin...

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“…The vast majority of BRCA-associated ovarian cancers are invasive serous lesions. 2,24 Although there are conflicting reports regarding whether BRCA mutations increase the risk of serous cancers of the uterus, 25,26 there is strong evidence to support inclusion of serous fallopian tube cancers in this syndrome. [27][28][29] In the presence of abdominal carcinomatosis, it is often difficult to determine with certainty whether the cancer arose in the fallopian tube or ovary, and some fallopian tube cancers may be misclassified as ovarian, leading to an underestimation of the incidence of fallopian tube cancer.…”

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

The Role of Genetic Testing for Cancer Susceptibility in Gynecologic Practice

Karlan¹,

Berchuck²,

Mutch³

2007

Obstetrics &Amp; Gynecology

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Genetic counseling and testing for inherited disorders are part of every obstetrician-gynecologist's practice. Family history, ethnicity, and race are routinely evaluated as a part of the prenatal assessment. The discovery of genes responsible for inherited cancer susceptibility and the wide availability of clinical genetic testing for mutations in these genes have made similar assessments an integral part of gynecologic practice as well. The indications for genetic testing for mutations in BRCA1, BRCA2, and the mismatch repair genes responsible for the hereditary nonpolyposis colon cancer (HNPCC) syndrome need to be individualized. As in obstetrics, genetic counseling can provide critical assessment of the family history to help determine the likelihood of an inherited cancer susceptibility syndrome and the appropriateness of genetic testing. The subsequent clinical recommendations for mutation carriers need to take into account the patient's age, desire for future childbearing, and other medical history when prescribing screening interventions or prophylactic surgery. Practical applications of genetic testing for cancer susceptibility have the ability to reduce the burden of hereditary cancers by saving lives, decreasing medical morbidities, and reducing psychological stress.

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BRCA1 germline mutations in women with uterine serous papillary carcinoma

Cited by 36 publications

References 21 publications

Uterine papillary serous cancer: A review of the literature

Uterine papillary serous cancer: A review of the literature

Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations

The Role of Genetic Testing for Cancer Susceptibility in Gynecologic Practice

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