Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20 years

Weiss, Arielle S.; Swisher, Elizabeth M.; Pennington, Kathryn P.; Radke, Marc R.; Khasnavis, Nithisha; Garcia, Rochelle L.; Kilgore, Mark R.; Lee, Ming K.; Norquist, Barbara M.

doi:10.1016/j.ygyno.2020.06.509

Cited by 3 publications

(1 citation statement)

References 21 publications

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“…Germline mutations in the BRCA1 and BRCA2 genes, present in 13-22% of HGSOC cases [184][185][186], are tightly correlated with the onset of OC, given their detection in patients who developed HG-SOC from precancerous FTE lesions [97]. Other reported germline mutations include RAD51, BRIP1, PALB2, CHEK2, MRE11A, RAD50, and ATM, which belong to the Fanconi anemia-BRCA pathway and play crucial roles in the HRR system for double-stranded DNA breaks [187][188][189][190]. Mutations affecting genes involved in HRR may also trigger HRR pathway deficiency (HRD), thereby increasing DNA errors, genomic instability, and the risk of HGSOC [82,191,192].…”

Section: Inherited Mutationsmentioning

confidence: 99%

Molecular Management of High-Grade Serous Ovarian Carcinoma

Punzón-Jiménez

Lago

Simón

et al. 2022

IJMS

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High-grade serous ovarian carcinoma (HGSOC) represents the most common form of epithelial ovarian carcinoma. The absence of specific symptoms leads to late-stage diagnosis, making HGSOC one of the gynecological cancers with the worst prognosis. The cellular origin of HGSOC and the role of reproductive hormones, genetic traits (such as alterations in P53 and DNA-repair mechanisms), chromosomal instability, or dysregulation of crucial signaling pathways have been considered when evaluating prognosis and response to therapy in HGSOC patients. However, the detection of HGSOC is still based on traditional methods such as carbohydrate antigen 125 (CA125) detection and ultrasound, and the combined use of these methods has yet to support significant reductions in overall mortality rates. The current paradigm for HGSOC management has moved towards early diagnosis via the non-invasive detection of molecular markers through liquid biopsies. This review presents an integrated view of the relevant cellular and molecular aspects involved in the etiopathogenesis of HGSOC and brings together studies that consider new horizons for the possible early detection of this gynecological cancer.

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Section: Inherited Mutationsmentioning

confidence: 99%

Molecular Management of High-Grade Serous Ovarian Carcinoma

Punzón-Jiménez

Lago

Simón

et al. 2022

IJMS

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Management of a Woman at Elevated Risk for Breast Cancer

Sahni

Sharma

Pederson

2021

Breast &Amp; Gynecological Diseases

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Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer

Pederson,

Narod

2024

BJC Rep

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It is thirty years since the BRCA1 and BRCA2 genes were discovered and genetic testing for BRCA1 and BRCA2 was introduced. Despite increasing awareness of the genetic basis of cancer and our evolving knowledge of effective means of prevention, screening, and treatment for hereditary breast and ovarian cancers, genetic testing is underutilized, and most mutation carriers remain unidentified. In this commentary, we explore possible reasons for why this might be so. Our focus is on factors that may influence or deter a patient from pursuing testing, rather than discussing the implications of receiving a positive test result. Issues of concern include an inadequate number of genetic counselors, restrictive (and conflicting) eligibility criteria for testing, the cost of the test, health insurance coverage, fear of future insurance discrimination, privacy issues, lack of familiarity with the testing process in primary care and gaps in both patient and provider knowledge about the impact and the value of testing. We discuss how these factors may lead to the underutilization of genetic testing in North America and throughout the world and discuss alternative models of genetic healthcare delivery. We have invited leaders in cancer genetic from around the world to tell us what they think are the barriers to testing in their host countries.

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Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20 years

Cited by 3 publications

References 21 publications

Molecular Management of High-Grade Serous Ovarian Carcinoma

Molecular Management of High-Grade Serous Ovarian Carcinoma

Management of a Woman at Elevated Risk for Breast Cancer

Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer

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