Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions☆

Lancaster, Johnathan M.; Powell, C. Bethan; Kauff, Noah D.; Cass, Ilana; Chen, Lee May; Lu, Karen H.; Mutch, David G.; Berchuck, Andrew; Karlan, Beth Y.; Herzog, Thomas J.

doi:10.1016/j.ygyno.2007.09.031

Cited by 248 publications

(157 citation statements)

References 29 publications

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“…In addition to familial BRCA1 and BRCA2 mutations, there are other kinds of genetic risk factors, including common genetic variants of lower penetrance 2,3 . Molecular epidemiological studies have been conducted with the candidate gene approach to identify low penetrance susceptibility genes for ovarian cancer, many of which have showed inconsistent results [4][5][6][7][8][9][10][11] .…”

mentioning

confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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Ovarian cancer is the leading cause of death from gynaecological malignancies worldwide. Here we perform a three-stage genome-wide association study (GWAS) in Han Chinese women to identify risk genetic variants for epithelial ovarian cancer (EOC). We scan 900,015 single-nucleotide polymorphisms (SNPs) in 1,057 EOC cases and 1,191 controls in stage I, and replicate 41 SNPs (P meta o10 À 4 ) in 960 EOC cases and 1,799 controls (stage II), and an additional 492 EOC cases and 1,004 controls (stage III). Finally, we identify two EOC susceptibility loci at 9q22.33 (rs1413299 in COL15A1, P meta ¼ 1.88 Â 10 À 8 ) and 10p11.21 (rs1192691 near ANKRD30A, P meta ¼ 2.62 Â 10 À 8 ), and two consistently replicated loci at 12q14.2 (rs11175194 in SRGAP1, P meta ¼ 1.14 Â 10 À 7 ) and 9q34.2 (rs633862 near ABO and SURF6, P meta ¼ 8.57 Â 10 À 7 ) (Po0.05 in all three stages). These results may advance our understanding of genetic susceptibility to EOC.

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confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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“…4 Because of the relatively high prevalence of LS and the associated high risk for other primary malignancies, recommendations for screening all women with EC diagnosed under the age of 50 years for LS via tumor analysis have been incorporated into current guidelines. 3,5 Some guidelines advocate universal screening of all individuals with colorectal cancer 3,6 and perhaps even all patients with EC. 7 Regardless of the age at which it is initiated, such reflex testing of endometrial and colorectal tumors for markers of LS has simplified the workflow for many oncologists and should help to alleviate the underdiagnosis of LS.…”

Section: 2mentioning

confidence: 99%

Inherited predisposition to endometrial cancer: Moving beyond Lynch syndrome

Stadler

2014

Cancer

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Endometrial cancer (EC) is the most common invasive gynecologic cancer in the United States, with American women facing a lifetime EC risk of approximately 2.73%. 1 Although nongenetic factors such as obesity and prolonged exposure to estrogen are epidemiologically important contributing risk factors, an inherited genetic predisposition is believed to be present in approximately 5% of patients with an EC diagnosis. The identification of women with an inherited predisposition to EC has important implications for surveillance for associated cancer risks and for the identification of at-risk family members who may benefit from appropriate screening and prevention strategies. Medical and surgical oncologists play a critical role in the identification of patients who may have an inherited cancer predisposition syndrome, and they are responsible for determining whether a newly diagnosed cancer patient should be referred for a genetic cancer risk assessment.Although red flags for a hereditary cancer predisposition, including an early age at onset, multiple affected family members, and multiple primary tumors (especially in the same organ), have long been recognized, more recent research suggests that patients with specific tumor types should be considered for genetic testing regardless of their family history. Particular tumor-associated phenotypic features have been especially helpful for risk stratification and identification of individuals needing further genetic assessment for some cancer predisposition syndromes. For example, triple-negative breast cancer and microsatellite-instable colon cancers are predictive of hereditary breast and ovarian cancer and Lynch syndrome (LS), respectively. Such phenotypic associations have been incorporated into clinical guidelines such as those of the National Comprehensive Cancer Network (NCCN), and they are generally accepted by medical oncologists as features that should prompt a referral for genetic cancer risk assessment. 2,3For patients with EC, LS is the most common inherited cancer predisposition syndrome, with 1.8% of all EC cases occurring in the setting of LS. 4 Because of the relatively high prevalence of LS and the associated high risk for other primary malignancies, recommendations for screening all women with EC diagnosed under the age of 50 years for LS via tumor analysis have been incorporated into current guidelines.3,5 Some guidelines advocate universal screening of all individuals with colorectal cancer 3,6 and perhaps even all patients with EC. 7 Regardless of the age at which it is initiated, such reflex testing of endometrial and colorectal tumors for markers of LS has simplified the workflow for many oncologists and should help to alleviate the underdiagnosis of LS.Several groups have also documented a predisposition to EC in the setting of Cowden syndrome (CS), a rare autosomal dominant disorder caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23.31. [8][9][10] In addition to multiple hamartomas, CS ...

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“…Earlier oophorectomy is advised for breast cancer risk reduction and should be considered around the age of 35 years [81].…”

Section: Surgical Preventionmentioning

confidence: 99%

“…Chemoprevention or hormonal prevention options include the use of tamoxifen and raloxifene prophylactic oophorectomy [81]. Worthwhile lifestyle adaptations include an increase in physical activity [86], low fat diet and management of obesity.…”

Section: Medical Preventionmentioning

confidence: 99%

Screening for gynaecologic cancers in genetically predisposed women

Dreyer

2012

Best Practice & Research Clinical Obstetrics & Gynaecol

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Hereditary breast and ovarian cancer (HBOC) syndrome and hereditary nonpolyposis colon cancer (HNPCC) syndrome are the two most important syndromes responsible for inherited cancers in gynaecology. Genetic testing is available for both these syndromes. BRCA testing is affordable and easy in patients with ancestry where the mutation patterns are known, other population groups need full gene screening. HNPCC can now be diagnosed more frequently with the use of immunohistochemistry.Ovarian cancer risk is high in HBOC syndromes and advanced screening techniques should be used when preventive surgery is not an option. Early detection techniques offer less protection than prophylactic removal, but enable the patient to retain her reproductive organs. Oophorectomy has the advantage of reducing breast cancer risk.In colorectal cancer syndromes the risk for endometrial and ovarian cancer is much elevated. These risks should be recognised and addressed as these diseases are easy to prevent.

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Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions☆

Cited by 248 publications

References 29 publications

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Inherited predisposition to endometrial cancer: Moving beyond Lynch syndrome

Screening for gynaecologic cancers in genetically predisposed women

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