Endometrial cancer is the 4th most common cancer in women in France, with an increasing incidence partly due to the increase in diabetes and obesity. A genetic predisposition is found in approximately 5% of cases, notably Lynch syndrome, Peutz-Jeghers syndrome, hamartomatous tumor syndrome (Cowden syndrome), and BRCA1/2 mutations. Although no organized screening is in place for endometrial cancer in the general population, individual screening is recommended for most of these at-risk populations. Prophylactic surgery is a key strategy to reduce the risk of endometrial cancer in high-risk women. For patients with Lynch syndrome, recommendations favor a total hysterectomy with bilateral salpingo-oophorectomy starting at age 40, after childbearing is complete. Hormonal supplementation with natural estrogens is important until the physiological age of menopause to reduce bone and cardiovascular risks and to improve the quality of life, including sexual health, for these women. In Cowden syndrome and Peutz-Jeghers syndrome, the lack of data limits surgical recommendations, although prophylactic hysterectomy may be considered starting at age 40, once childbearing is complete. For patients with BRCA1/2 mutations, while risk-reducing adnexal surgery is recommended, hysterectomy remains debated. It requires a personalized assessment with patients based on the benefit/risk balance.
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http://dx.doi.org/10.1016/j.bulcan.2024.08.007 | DOI Listing |
Mol Cytogenet
March 2025
Department of Medical Research and Development, Chiayi Branch, Chang Gung Memorial Hospital Chiayi, Chiayi, 613, Taiwan.
Lynch syndrome is an autosomal dominant disorder predisposing individuals to colorectal and other cancers, primarily caused by variants in mismatch repair genes. This study describes a novel MSH6 variant affecting transcript structure in a Taiwanese family meeting the Amsterdam II criteria for Lynch syndrome. A 67-year-old male presented with jejunal adenocarcinoma and a strong family history of colorectal cancer.
View Article and Find Full Text PDFHum Reprod Open
February 2025
Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Study Question: What is the load and profile of hereditary cancer-linked germline variants in infertile compared to fertile men?
Summary Answer: This study showed almost 5-fold enrichment of disease-causing findings in hereditary cancer genes in infertile compared to fertile men (6.9% vs 1.5%, =2.
Eur J Cancer
March 2025
Department of Women, Children and Public Health Sciences, Gynecologic Oncology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Background: One third of endometrial carcinomas (ECs) presents with mismatch repair deficiency (MMRd). Of these, 70 % are caused by somatic hypermethylation of MLH1 promoter; the remaining cases are determined by Lynch syndrome or double somatic inactivation of MMR genes. Although associated with good-intermediate prognosis, heterogeneity in treatment response and survival has been reported among MMRd ECs.
View Article and Find Full Text PDFBull Cancer
March 2025
Chirurgie cancérologique gynécologique et du sein, hôpital européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France; Université Paris-Cité, UFR de médecine, 15, rue de l'École-de-Médecine, 75006 Paris, France; Inserm UMR-S 1147, université Paris-Cité, Paris, France. Electronic address:
Endometrial cancer is the 4th most common cancer in women in France, with an increasing incidence partly due to the increase in diabetes and obesity. A genetic predisposition is found in approximately 5% of cases, notably Lynch syndrome, Peutz-Jeghers syndrome, hamartomatous tumor syndrome (Cowden syndrome), and BRCA1/2 mutations. Although no organized screening is in place for endometrial cancer in the general population, individual screening is recommended for most of these at-risk populations.
View Article and Find Full Text PDFBMJ Oncol
February 2025
Genomic Medicine, Manchester Academic Health Science Centre, Manchester, UK.
Objective: Germline pathogenic variants (PVs) are known to cause ~4% of prostate cancer, but other homologous repair genes, and Lynch syndrome genes are also involved. Our objective was to assess the contribution of germline and somatic gene variants to prostate cancer.
Methods And Analysis: We reviewed germline/tumour DNA testing from 450 localised or metastatic prostate cancer cases in NW England mainly from 2022 to 2024.
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