Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition

Ripamonti, Carla; Manoukian, Siranoush; Peissel, Bernard; Azzollini, Jacopo; Carcangiu, Maria Luisa; Radice, Paolo

doi:10.1016/j.cancergen.2017.12.001

Cited by 6 publications

(5 citation statements)

References 37 publications

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“…Saule et al, in a study of 369 French BRCA1/2 mutation carriers, reported a 3% risk for developing serous endometrial cancer by age 70 years but no increased risk for all endometrial cancer subtypes combined in BRCA1/2 mutation carriers. Recently, an Italian group that analyzed the rate of uterine carcinosarcomas in 1854 high‐risk families reported that 11 families had a case of gynecological carcinosarcoma, including 4 families with a BRCA1 mutation, 4 families with a BRCA2 mutation, and 3 high‐risk families without mutations in either BRCA gene …”

Section: Discussionmentioning

confidence: 99%

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Laitman

Michaelson‐Cohen

Levi

et al. 2018

Cancer

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for the Israeli Consortium of Hereditary Breast Cancer BACKGROUND: BRCA1/2 mutation carriers have an increased risk of developing ovarian cancer, leading to the recommendation of risk-reducing salpingo-oophorectomy (RRSO) at 35-40 years of age. The role, if any, that BRCA mutations play in conferring uterine cancer risk, is unresolved. METHOD: Jewish Israeli women, carriers of one of the predominant Jewish mutations in BRCA1/2 from 1998 to 2016, were recruited. Cancer diagnoses were determined through the Israeli National Cancer Registry. Uterine cancer risk was assessed by computing the standardized incidence ratio of observed-to-expected number of cases, using the exact 2-sided P value of Poisson count. RESULTS: Overall, 2627 eligible mutation carriers were recruited from 1998 to 2016, 2312 (88%) of whom were Ashkenazi Jews (1463 BRCA1, 1154 BRCA2 mutation carriers, 10 double mutation carriers). Among these participants, 1310 underwent RRSO without hysterectomy at a mean (± standard deviation) age of 43.6 years (± 4.4 years). During 32,774 women-years of follow up, 14 women developed uterine cancer, and the observed-to-expected rate of all histological subtypes was 3.98 (95% confidence interval [CI], 2.17-6.67; P < .001). For serous papillary (n = 5), the observed-to-expected ratio was 14.29 (95% CI, 4.64-33.34; P < .001), and for sarcoma (n = 4) it was 37.74 (95% CI, 10.28-96.62). These rates were also higher than those detected in a group of 1844 age-and ethnicity-matched women (53% with breast cancer). CONCLUSION: Israeli BRCA1 or BRCA2 mutation carriers are at an increased risk for developing uterine cancer, especially serous papillary and sarcoma. These elevated risks of uterine cancer should be discussed with BRCA carriers. Cancer 2019;125:698-703.

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Section: Discussionmentioning

confidence: 99%

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Laitman

Michaelson‐Cohen

Levi

et al. 2018

Cancer

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“…The lifetime risk of primary peritoneal cancer among such patients has been estimated to be 1.3–1.5% [ 17 , 18 ]. The occurrence of gynecological CSs has been described in hereditary breast and ovarian cancer-susceptible families with BRCA1/2 germline pathogenic variants [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report

Mendes Gomes,

Lazari Sandoval,

Bragança Xavier

et al. 2024

Case Rep Oncol

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Malignant mixed müllerian tumor (MMMT) is a rare neoplasm, consisting of carcinomatous (epithelial) and sarcomatous (mesenchymal) components that most commonly arise in the endometrium and more infrequently in the ovaries, fallopian tube, cervix, and vagina. Primary peritoneal carcinosarcoma (PPCS) is an extremely rare extragenital presentation of MMMT. Although the occurrence of breast cancer and epithelial ovarian carcinoma in association with BRCA pathogenic variants is firmly established, the etiologic role of these genes in the development of other tumor types is less well known. Here, we present a rare case of PPCS in a 42-year-old Brazilian woman with a BRCA2 pathogenic variant, c.2808_2811del (NM_000059.3). The patient developed metastatic breast cancer at the age of 37 and underwent a risk-reducing bilateral salpingo-oophorectomy 2 years later. She was then diagnosed with PPCS 3 years after the risk-reducing surgery. She underwent treatment with surgery, chemotherapy, and targeted therapy but passed away almost 5 years after the second primary tumor diagnosis. To our knowledge, this is the first case of peritoneal carcinosarcoma described in a BRCA2 pathogenic variant carrier, and its report leads to a better understanding of the disease’s molecular features and possible therapeutic approaches.

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“…Studies have shown that patients with BRCA1 andBRCA2 mutations are susceptible to developing BC associated with OC, and the probability of developing epithelial-type BC is higher, as is that of developing the histological subtype of serous OC. 34,38,39 Regarding molecular typing,BRCA1 -associated BC is of the medullary subtype with a high proportion of negative estrogen and progesterone receptor expression. 39,40 BRCA2 -associated BC is similar to luminal-type tumors.…”

Section: Doublementioning

confidence: 99%

Common multiple primary cancers associated with breast and gynecologic cancers: A review

Ge,

2024

Preprint

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The mammary glands are closely related to the female reproductive system. Due to various factors including increased survival of patients with breast cancer (BC), there is an increased probability of developing additional primary gynecologic cancers such as ovarian cancer (OC), endometrial cancer (EC), and cervical cancer (CC). Multiple primary cancers (MPCs) refer to two or more different primary malignancies occurring in the same or different organs in the same patient. This review discusses the common types of BC-associated MPCs, namely, BC associated with OC, EC, or CC, as well as risk factors, clinical classifications, pathology, treatment, and prognosis.

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Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition

Cited by 6 publications

References 37 publications

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline <i>BRCA2</i> Pathogenic Variant: Case Report

Common multiple primary cancers associated with breast and gynecologic cancers: A review

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