Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer

Jessica Lee, Lindsay R. Gubernick, Allison L. Brodsky, Julia E. Fehniger, Douglas A. Levine, Deanna Gerber, Shabnam A. Asgari, Anna Cantor, Jessica T. Martineau, Ophira M. Ginsburg, Julia A. Smith, Bhavana Pothuri

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Objectives: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. Methods: All women diagnosed with EC between 2011 and 2016 were identified. Risk factors for LS including age, family and personal histories of Lynch-related cancers and loss of tumor mismatch repair (MMR) protein expression were identified from laboratory and medical records. Standard two-sided statistical tests were used. Results: Of 583 women diagnosed with EC, 184 (31.6%) were found to have at least one high-risk characteristic for LS. Among these high-risk women, 58% were given GCR and resulting in only 35% undergoing GT. Ten of the 65 high-risk women who had GT (15.4%) were diagnosed with Lynch syndrome, and all ten met high-risk criteria. Two women of Asian race had tumors exhibiting retained MMR protein expression despite germline testing demonstrating Lynch syndrome. Conclusions: Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression.

Original languageEnglish (US)
Pages (from-to)153-158
Number of pages6
JournalGynecologic Oncology
Volume151
Issue number1
DOIs
StatePublished - Oct 2018
Externally publishedYes

Fingerprint

Genetic Counseling
Genetic Testing
Endometrial Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
DNA Mismatch Repair
Referral and Consultation
Neoplasms
Proteins
Germ-Line Mutation
Medical Records

Keywords

  • Endometrial cancer
  • Genetic counseling
  • Lynch syndrome
  • Mismatch repair

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology

Cite this

Missed opportunities : Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer. / Lee, Jessica; Gubernick, Lindsay R.; Brodsky, Allison L.; Fehniger, Julia E.; Levine, Douglas A.; Gerber, Deanna; Asgari, Shabnam A.; Cantor, Anna; Martineau, Jessica T.; Ginsburg, Ophira M.; Smith, Julia A.; Pothuri, Bhavana.

In: Gynecologic Oncology, Vol. 151, No. 1, 10.2018, p. 153-158.

Research output: Contribution to journalArticle

Lee, J, Gubernick, LR, Brodsky, AL, Fehniger, JE, Levine, DA, Gerber, D, Asgari, SA, Cantor, A, Martineau, JT, Ginsburg, OM, Smith, JA & Pothuri, B 2018, 'Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer', Gynecologic Oncology, vol. 151, no. 1, pp. 153-158. https://doi.org/10.1016/j.ygyno.2018.07.023
Lee, Jessica ; Gubernick, Lindsay R. ; Brodsky, Allison L. ; Fehniger, Julia E. ; Levine, Douglas A. ; Gerber, Deanna ; Asgari, Shabnam A. ; Cantor, Anna ; Martineau, Jessica T. ; Ginsburg, Ophira M. ; Smith, Julia A. ; Pothuri, Bhavana. / Missed opportunities : Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer. In: Gynecologic Oncology. 2018 ; Vol. 151, No. 1. pp. 153-158.
@article{71847b060a7a4eb8bae0dbfaeb731d36,
title = "Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer",
abstract = "Objectives: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. Methods: All women diagnosed with EC between 2011 and 2016 were identified. Risk factors for LS including age, family and personal histories of Lynch-related cancers and loss of tumor mismatch repair (MMR) protein expression were identified from laboratory and medical records. Standard two-sided statistical tests were used. Results: Of 583 women diagnosed with EC, 184 (31.6{\%}) were found to have at least one high-risk characteristic for LS. Among these high-risk women, 58{\%} were given GCR and resulting in only 35{\%} undergoing GT. Ten of the 65 high-risk women who had GT (15.4{\%}) were diagnosed with Lynch syndrome, and all ten met high-risk criteria. Two women of Asian race had tumors exhibiting retained MMR protein expression despite germline testing demonstrating Lynch syndrome. Conclusions: Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression.",
keywords = "Endometrial cancer, Genetic counseling, Lynch syndrome, Mismatch repair",
author = "Jessica Lee and Gubernick, {Lindsay R.} and Brodsky, {Allison L.} and Fehniger, {Julia E.} and Levine, {Douglas A.} and Deanna Gerber and Asgari, {Shabnam A.} and Anna Cantor and Martineau, {Jessica T.} and Ginsburg, {Ophira M.} and Smith, {Julia A.} and Bhavana Pothuri",
year = "2018",
month = "10",
doi = "10.1016/j.ygyno.2018.07.023",
language = "English (US)",
volume = "151",
pages = "153--158",
journal = "Gynecologic Oncology",
issn = "0090-8258",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Missed opportunities

T2 - Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer

AU - Lee, Jessica

AU - Gubernick, Lindsay R.

AU - Brodsky, Allison L.

AU - Fehniger, Julia E.

AU - Levine, Douglas A.

AU - Gerber, Deanna

AU - Asgari, Shabnam A.

AU - Cantor, Anna

AU - Martineau, Jessica T.

AU - Ginsburg, Ophira M.

AU - Smith, Julia A.

AU - Pothuri, Bhavana

PY - 2018/10

Y1 - 2018/10

N2 - Objectives: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. Methods: All women diagnosed with EC between 2011 and 2016 were identified. Risk factors for LS including age, family and personal histories of Lynch-related cancers and loss of tumor mismatch repair (MMR) protein expression were identified from laboratory and medical records. Standard two-sided statistical tests were used. Results: Of 583 women diagnosed with EC, 184 (31.6%) were found to have at least one high-risk characteristic for LS. Among these high-risk women, 58% were given GCR and resulting in only 35% undergoing GT. Ten of the 65 high-risk women who had GT (15.4%) were diagnosed with Lynch syndrome, and all ten met high-risk criteria. Two women of Asian race had tumors exhibiting retained MMR protein expression despite germline testing demonstrating Lynch syndrome. Conclusions: Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression.

AB - Objectives: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women. Methods: All women diagnosed with EC between 2011 and 2016 were identified. Risk factors for LS including age, family and personal histories of Lynch-related cancers and loss of tumor mismatch repair (MMR) protein expression were identified from laboratory and medical records. Standard two-sided statistical tests were used. Results: Of 583 women diagnosed with EC, 184 (31.6%) were found to have at least one high-risk characteristic for LS. Among these high-risk women, 58% were given GCR and resulting in only 35% undergoing GT. Ten of the 65 high-risk women who had GT (15.4%) were diagnosed with Lynch syndrome, and all ten met high-risk criteria. Two women of Asian race had tumors exhibiting retained MMR protein expression despite germline testing demonstrating Lynch syndrome. Conclusions: Many high-risk women do not receive GCR despite a high rate of germline mutations among these women. Improving GCR among high-risk women will lead to more subsequent GT to identify more Lynch syndrome families and prevent additional cancers. Among our ethnically diverse cohort, two women diagnosed with LS had retained MMR protein expression. GCR should be offered to women who possess high-risk characteristics despite normal MMR protein expression.

KW - Endometrial cancer

KW - Genetic counseling

KW - Lynch syndrome

KW - Mismatch repair

UR - http://www.scopus.com/inward/record.url?scp=85050813669&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85050813669&partnerID=8YFLogxK

U2 - 10.1016/j.ygyno.2018.07.023

DO - 10.1016/j.ygyno.2018.07.023

M3 - Article

C2 - 30077346

AN - SCOPUS:85050813669

VL - 151

SP - 153

EP - 158

JO - Gynecologic Oncology

JF - Gynecologic Oncology

SN - 0090-8258

IS - 1

ER -