Abstract:
OBJECTIVE:Determine factors impacting the uptake of genetic counseling and results of genetic testing following universal tumor testing for Lynch syndrome in patients with endometrial cancer. METHODS:The study population consisted of two unselected cohorts of endometrial cancer patients, 408 identified retrospectively and 206 identified prospectively. Immunohistochemistry for mismatch repair protein expression and/or microsatellite instability analysis was performed on these tumors. MLH1 methylation analysis was performed on tumors with loss of MLH1 protein. Tumor studies were considered suggestive of Lynch Syndrome if they showed immunohistochemical loss of MSH2, MSH6 or PMS2, loss of MLH1 without MLH1 promoter methylation, and/or microsatellite instability. Participants with suggestive tumor studies were contacted and offered genetic counseling and testing. RESULTS:In the retrospective cohort, 11% had tumor studies suggestive of Lynch syndrome, and 42% was seen for genetic counseling. A germline mutation was detected in 40%, and one had a variant of uncertain significance. In the prospective cohort, 8.7% of patients had tumor testing suggestive of Lynch syndrome; 72% were seen for genetic counseling. Germline mutations were found in 40%, and one had a variant of uncertain significance. Common challenges included timing of re-contact, age, perceived lack of relevance, inability to travel and limited insurance coverage. CONCLUSIONS:There are several barriers to genetic counseling and testing follow-up after universal tumor testing, and uninformative genetic test results present a management challenge. It is important to consider these limitations when implementing an approach to screening endometrial cancer patients for Lynch syndrome.
journal_name
Gynecol Oncoljournal_title
Gynecologic oncologyauthors
Batte BA,Bruegl AS,Daniels MS,Ring KL,Dempsey KM,Djordjevic B,Luthra R,Fellman BM,Lu KH,Broaddus RRdoi
10.1016/j.ygyno.2014.06.009subject
Has Abstractpub_date
2014-08-01 00:00:00pages
319-25issue
2eissn
0090-8258issn
1095-6859pii
S0090-8258(14)01040-3journal_volume
134pub_type
杂志文章abstract::Twenty-nine women, ages 30-58 years, with advanced ovarian carcinoma were treated with a developmental combination chemotherapy regimen consisting of mitomycin C, etoposide, cisplatin, and carboplatin (MECCA). This protocol utilized the concepts of dose intensity, front-end loading, non-cross-resistance, and synergy. ...
journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1996.0334
更新日期:1996-12-01 00:00:00
abstract::Episiotomy scar tumor implantation arising from a cervical carcinoma is rare. This report details a patient who developed an episiotomy implant from a "microinvasive" adenocarcinoma of the cervix 5 months following vaginal delivery. The implant behaved as a primary focus for metastases to the inguinal lymph nodes. Des...
journal_title:Gynecologic oncology
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doi:10.1006/gyno.1995.0025
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journal_title:Gynecologic oncology
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doi:10.1006/gyno.2000.5900
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2012.03.006
更新日期:2012-06-01 00:00:00
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journal_title:Gynecologic oncology
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doi:10.1016/j.ygyno.2019.02.026
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2005.07.107
更新日期:2005-12-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2007.04.002
更新日期:2007-07-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2004.08.031
更新日期:2004-12-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/0090-8258(91)90254-3
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2017.01.007
更新日期:2017-03-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/0090-8258(91)90356-a
更新日期:1991-09-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/0090-8258(90)90063-q
更新日期:1990-09-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2013.07.001
更新日期:2013-10-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章,评审
doi:10.1016/j.ygyno.2015.05.003
更新日期:2015-07-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1994.1098
更新日期:1994-04-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2012.07.114
更新日期:2012-11-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/0090-8258(83)90049-5
更新日期:1983-06-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ygyno.2013.04.009
更新日期:2013-07-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/0090-8258(92)90111-u
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journal_title:Gynecologic oncology
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doi:10.1006/gyno.2001.6461
更新日期:2002-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1006/gyno.1994.1257
更新日期:1994-10-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1995.1204
更新日期:1995-08-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2007.01.011
更新日期:2007-05-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2017.03.011
更新日期:2017-05-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1993.1059
更新日期:1993-03-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ygyno.2014.01.036
更新日期:2014-03-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1995.1037
更新日期:1995-02-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1993.1007
更新日期:1993-01-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1016/j.ygyno.2014.01.013
更新日期:2014-04-01 00:00:00
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journal_title:Gynecologic oncology
pub_type: 杂志文章
doi:10.1006/gyno.1995.1167
更新日期:1995-06-01 00:00:00