Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis

Lu, Guojiao; Lü, Tao; Pan, Jichen; Guo, Ling; Pang, Yingxin; Liu, Peishu

doi:10.1007/s00404-020-05887-7

Cited by 3 publications

(4 citation statements)

References 33 publications

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“…One study [ 23 ] stated that BRCA mutations are associated with the increased incidence of endometrial carcinoma. BRCA1 and BRCA2 mutations were put together for analysis; most studies were case-control studies, and cases were selected amongst patients with endometrial carcinoma.…”

Section: Discussionmentioning

confidence: 99%

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BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies

Lee

2021

Medicina

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Background and Objectives:BRCA1 and BRCA2 are genes located in different chromosomes that are disproportionately associated with hereditary breast and ovarian cancer syndrome. Their association with other cancers remains to be explored. Materials and Methods: We systematically reviewed cohort studies to explore the association of BRCA 1 and BRCA2 with various cancers except lung cancer. We searched PubMed, Medline (EBSCOhost) and relevant articles published up to 10 May 2021. The odds ratio, standardised morbidity rate and cancer-specific standardised incidence ratio were pooled together as relative risk (RR) estimates. Results: Twelve studies were included for analysis. BRCA mutation increased pancreatic and uterine cancers by around 3–5- and 1.5-fold, respectively. BRCA mutation did not increase brain cancer; colorectal cancer; prostate, bladder and kidney cancer; cervical cancer; or malignant melanoma. BRCA2 increased gastric cancer with RR = 2.15 (1.98–2.33). Conclusion: The meta-analysis results can provide clinicians and relevant families with information regarding increased specific cancer risk in BRCA1 and BRCA2 mutation carriers.

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Section: Discussionmentioning

confidence: 99%

“…BRCA1 and BRCA2 mutations were put together for analysis; most studies were case-control studies, and cases were selected amongst patients with endometrial carcinoma. Two studies [ 23 , 24 ] were from the same author (Lavie O). Another study [ 24 ] related to meta-analysis grouped both BRCA genes together.…”

Section: Discussionmentioning

confidence: 99%

BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies

Lee

2021

Medicina

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“…The question of whether the increased proportion of high-grade serous endometrial cancer in BRCA1 carriers who develop endometrial cancer should be prevented with risk-reducing hysterectomy is controversial and beyond the scope of this paper. 18 Hysterectomy also simplifies the administration of menopausal hormonal therapy, where estrogen alone can be prescribed.…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, important reasons to consider concurrent hysterectomy include endometrial cancer risk mitigation for women on tamoxifen and concurrent uterine (eg, large fibroids, pelvic organ prolapse) or cervical (eg, previous abnormal cervical cytology) pathology. The question of whether the increased proportion of high-grade serous endometrial cancer in BRCA1 carriers who develop endometrial cancer should be prevented with risk-reducing hysterectomy is controversial and beyond the scope of this paper 18 . Hysterectomy also simplifies the administration of menopausal hormonal therapy, where estrogen alone can be prescribed.…”

Section: Discussionmentioning

confidence: 99%

Factors affecting surgical decision-making in carriers of BRCA1/2 pathogenic variants undergoing risk-reducing surgery at a dedicated hereditary ovarian cancer clinic

et al. 2021

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Objective: Women with germline BRCA1/2 pathogenic variants have a significantly elevated lifetime risk of ovarian and fallopian tube cancer. Bilateral salpingo-oophorectomy (RRSO) is associated with a 90% reduction in the development of tubal and ovarian cancer. At our tertiary hospital, we have a dedicated clinic where women predisposed to hereditary ovarian/tubal cancer receive counseling on reproduction, risk reduction, surgical prophylaxis, and menopausal aftercare. The objective of this study was to evaluate the choices that Canadian women with BRCA1/2 pathogenic variants make regarding ovarian cancer risk reduction within this highly specialized multidisciplinary clinic.Methods: This retrospective chart review included all women with confirmed BRCA1/2 mutations referred to the Familial Ovarian Cancer Clinic at Women's College Hospital, Toronto, Canada over a 45-month time period. Patient demographics, preoperative consultation notes and investigations, intraoperative findings, and pathology were recorded.Results: A total of 191 women were included in our cohort; 140 (73.3%) underwent risk-reducing surgery and 51 (26.7%) deferred or declined surgery. In women who underwent surgical prevention (median age 45 [30-72] y), 123 (87.9%) underwent RRSO and 17 (12.1%) chose a risk-reducing bilateral salpingectomy with deferred oophorectomy. Of the women undergoing RRSO, 11 (8.9%) women chose concurrent hysterectomy. Prevalent themes affecting decision-making included fears around premature surgical menopause, family planning, and concerns around development of endometrial cancer related to tamoxifen.Conclusion: Women with BRCA1/2 pathogenic variants face challenging decisions regarding risk reduction and care providers must be knowledgeable and supportive in helping women make informed and individualized choices about their care.

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Exposure to p-dichlorobenzene and prevalent endocrine-related reproductive cancers among US women

Pridgen,

Zhu,

Wei

2023

Environ Sci Pollut Res

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Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis

Cited by 3 publications

References 33 publications

BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies

BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies

Factors affecting surgical decision-making in carriers of BRCA1/2 pathogenic variants undergoing risk-reducing surgery at a dedicated hereditary ovarian cancer clinic

Exposure to p-dichlorobenzene and prevalent endocrine-related reproductive cancers among US women

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