Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

Sessa, Cristiana; Balmañà, Judith; Bober, Sharon L.; Cardoso, M.J.; Colombo, N.; Curigliano, Giuseppe; Domchek, Susan M.; Evans, D. Gareth; Fischerová, D.; Harbeck, Nadia; Kühl, Christiane; Lemley, Birthe; Levy‐Lahad, Ephrat; Lambertini, Matteo; Ledermann, Jonathan A.; Loibl, Sibylle; Phillips, Kelly‐Anne; Shimon, Paluch

doi:10.1016/j.annonc.2022.10.004

Cited by 98 publications

(103 citation statements)

References 114 publications

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“…In addition to the collection of the biopsy, a tumor marker profile was obtained during the same appointment and additional imaging tests were scheduled. Tumor marker profile included cancer antigen 125 (CA 125), carcinoembryonic antigen (CEA), cancer antigen 19 primary tumor. Magnetic resonance imaging of the liver was added for closer characterization of liver lesions and their potential resectability.…”

Section: Case Summarymentioning

confidence: 99%

“…The occurrence of carcinoma in younger patients can be associated with hereditary syndromes characterized by germline mutation with higher risk of cancer development. A possible source of endometrioid carcinoma, which can be associated with Lynch or Cowden syndrome, can be the uterus or ovary, or endometriosis in any localization ( 19 ). Hereditary breast and ovarian cancer (HBOC) syndrome is associated with no or low risk of endometrial cancer, however, of different histotype, mainly endometrial serous carcinoma ( 20 , 21 ).…”

Section: Introductionmentioning

confidence: 99%

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Primary retroperitoneal nodal endometrioid carcinoma associated with Lynch syndrome: A case report

Fischerová

Scovazzi²,

Sousa³

et al. 2023

Front. Oncol.

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We report a rare case of primary nodal, poorly differentiated endometrioid carcinoma associated with Lynch syndrome. A 29-year-old female patient was referred by her general gynecologist for further imaging with suspected right-sided ovarian endometrioid cyst. Ultrasound examination by an expert gynecological sonographer at tertiary center revealed unremarkable findings in the abdomen and pelvis apart from three iliac lymph nodes showing signs of malignant infiltration in the right obturator fossa and two lesions in the 4b segment of the liver. During the same appointment ultrasound guided tru-cut biopsy was performed to differentiate hematological malignancy from carcinomatous lymph node infiltration. Based on the histological findings of endometrioid carcinoma from lymph node biopsy, primary debulking surgery including hysterectomy and salpingo-oophorectomy was performed. Endometrioid carcinoma was confirmed only in the three lymph nodes suspected on the expert scan and primary nodal origin of endometroid carcinoma developed from ectopic Müllerian tissue was considered. As a part of the pathological examination immunohistochemistry analysis for mismatch repair protein (MMR) expression was done. The findings of deficient mismatch repair proteins (dMMR) led to additional genetic testing, which revealed deletion of the entire EPCAM gene up to exon 1-8 of the MSH2 gene. This was unexpected considering her insignificant family history of cancer. We discuss the diagnostic work-up for patients presenting with metastatic lymph node infiltration by cancer of unknown primary and possible reasons for malignant lymph node transformation associated with Lynch syndrome.

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Section: Case Summarymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Primary retroperitoneal nodal endometrioid carcinoma associated with Lynch syndrome: A case report

Fischerová

Scovazzi²,

Sousa³

et al. 2023

Front. Oncol.

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“…These tests allow us to simultaneously examine all the above-mentioned genes ( BRCA1 , BRCA2 , PALB2 , ATM , CHEK2 , BARD1 , BRIP1 , RAD51C , RAD51D , TP53 , PTEN , MSH2 , MSH6 , MLH1 , PMS2 , EPCAM , CDH1 , NF1 , STK11 ) associated with a certain family cancer phenotype, helping in the differential diagnosis of HBOC. According to NCCN and ESMO guidelines [ 5 , 39 ], clinically validated multigene panels should be provided to individuals with significant personal and/or family history of BC, OC, pancreatic or prostate cancer ( Table 1 ).…”

Section: Hereditary Breast and Ovarian Cancer Syndromes And Parp Inhi...mentioning

confidence: 99%

Personalized Systemic Therapies in Hereditary Cancer Syndromes

Mastrodomenico

Piombino

Riccò

et al. 2023

Genes

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Hereditary cancer syndromes are inherited disorders caused by germline pathogenic variants (PVs) that lead to an increased risk of developing certain types of cancer, frequently at an earlier age than in the rest of the population. The germline PVs promote cancer development, growth and survival, and may represent an ideal target for the personalized treatment of hereditary tumors. PARP inhibitors for the treatment of BRCA and PALB2-associated tumors, immune checkpoint inhibitors for tumors associated with the Lynch Syndrome, HIF-2α inhibitor in the VHL-related cancers and, finally, selective RET inhibitors for the treatment of MEN2-associated medullary thyroid cancer are the most successful examples of how a germline PVs can be exploited to develop effective personalized therapies and improve the outcome of these patients. The present review aims to describe and discuss the personalized systemic therapies for inherited cancer syndromes that have been developed and investigated in clinical trials in recent decades.

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“…The incidences by the age of 70 years for OC in BRCA1 and BRCA2 GPV carriers have been estimated to be 48.3% and 20.0%, respectively 127 . The national guidelines in various countries recommend salpingo‐oophorectomy (RRSO) which reduces incidence of OC and improves prognosis 123–126 . If RRSO is not performed in carriers of BRCA1 and BRCA2 GPV, surveillance such as transvaginal ultrasonography and serum tumor marker CA125 can be considered 123…”

Section: Inherited Susceptibility Genes In Gynecological Cancermentioning

confidence: 99%

Landscape of somatic mutated genes and inherited susceptibility genes in gynecological cancer

Watanabe,

Soeda,

Okoshi

et al. 2023

J of Obstet and Gynaecol

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Traditionally, gynecological cancers have been classified based on histology. Since remarkable advancements in next‐generation sequencing technology have enabled the exploration of somatic mutations in various cancer types, comprehensive sequencing efforts have revealed the genomic landscapes of some common forms of human cancer. The genomic features of various gynecological malignancies have been reported by several studies of large‐scale genomic cohorts, including The Cancer Genome Atlas. Although recent comprehensive genomic profiling tests, which can detect hundreds of genetic mutations at a time from cancer tissues or blood samples, have been increasingly used as diagnostic clinical biomarkers and in therapeutic management decisions, germline pathogenic variants associated with hereditary cancers can also be detected using this test. Gynecological cancers are closely related to genetic factors, with approximately 5% of endometrial cancer cases and 20% of ovarian cancer cases being caused by germline pathogenic variants. Hereditary breast and ovarian cancer syndrome and Lynch syndrome are the two major cancer susceptibility syndromes among gynecological cancers. In addition, several other hereditary syndromes have been reported to be associated with gynecological cancers. In this review, we highlight the genes for somatic mutation and germline pathogenic variants commonly seen in gynecological cancers. We first describe the relationship between clinicopathological attributes and somatic mutated genes. Subsequently, we discuss the characteristics and clinical management of inherited cancer syndromes resulting from pathogenic germline variants in gynecological malignancies.

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Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

Cited by 98 publications

References 114 publications

Primary retroperitoneal nodal endometrioid carcinoma associated with Lynch syndrome: A case report

Primary retroperitoneal nodal endometrioid carcinoma associated with Lynch syndrome: A case report

Personalized Systemic Therapies in Hereditary Cancer Syndromes

Landscape of somatic mutated genes and inherited susceptibility genes in gynecological cancer

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