Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

Abstract:

:Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in women with LS presenting with EMC. Probands with EMC and LS were identified. Personal and family history was entered into three prediction models, PREMM(1,2), MMRpro, and MMRpredict. Probabilities of mutations in the mismatch repair genes were recorded. Accurate prediction was defined as a model predicting at least a 5% chance of a proband carrying a mutation. From 562 patients prospectively enrolled in a clinical trial of patients with EMC, 13 (2.2%) were shown to have LS. Nine patients had a mutation in MSH6, three in MSH2, and one in MLH1. MMRpro predicted that 3 of 9 patients with an MSH6, 3 of 3 with an MSH2, and 1 of 1 patient with an MLH1 mutation could have LS. For MMRpredict, EMC coded as "proximal CRC" predicted 5 of 5, and as "distal CRC" three of five. PREMM(1,2) predicted that 4 of 4 with an MLH1 or MSH2 could have LS. Prediction of LS in probands presenting with EMC using current models for probands with CRC works reasonably well. Further studies are needed to develop models that include questions specific to patients with EMC with a greater age range, as well as placing increased emphasis on prediction of LS in probands with MSH6 mutations.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Backes FJ,Hampel H,Backes KA,Vaccarello L,Lewandowski G,Bell JA,Reid GC,Copeland LJ,Fowler JM,Cohn DE

doi

10.1007/s10689-009-9273-5

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

483-7

issue

4

eissn

1389-9600

issn

1573-7292

journal_volume

8

pub_type

杂志文章
  • Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

    abstract::Lynch syndrome is an autosomal dominant cancer susceptibility syndrome characterized by the early development of microsatellite unstable colorectal, endometrial and other cancers. Lynch syndrome is caused by germline heterozygous loss-of-function sequence mutations within the mismatch repair genes MLH1, MSH2, MSH6 or ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-009-9314-0

    authors: Kwok CT,Ward RL,Hawkins NJ,Hitchins MP

    更新日期:2010-09-01 00:00:00

  • Unmet support needs and distress among women with a BRCA1/2 mutation.

    abstract::Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-012-9596-5

    authors: Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

    更新日期:2013-09-01 00:00:00

  • Standards of care in diagnosis and testing for hereditary colon cancer.

    abstract::Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variant...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-007-9159-3

    authors: Lynch PM

    更新日期:2008-01-01 00:00:00

  • Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.

    abstract::Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals age...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00173-6

    authors: Werner-Lin A,Young JL,Wilsnack C,Merrill SL,Groner V,Greene MH,Khincha PP

    更新日期:2020-07-01 00:00:00

  • Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

    abstract::Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family hist...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-014-9752-1

    authors: Mann K,Magee J,Guillaud-Bataille M,Blondel C,Bressac-de Paillerets B,Yeatman J,Winship I

    更新日期:2015-03-01 00:00:00

  • An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC).

    abstract::Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9910-8

    authors: Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J

    更新日期:2016-10-01 00:00:00

  • Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

    abstract:AIM:This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS:This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival par...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-006-9101-0

    authors: Einbeigi Z,Bergman A,Meis-Kindblom JM,Flodin A,Bjursell C,Martinsson T,Kindblom LG,Wahlström J,Wallgren A,Nordling M,Karlsson P

    更新日期:2007-01-01 00:00:00

  • Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

    abstract::New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-018-0080-8

    authors: Hakkaart C,Ellison-Loschmann L,Day R,Sporle A,Koea J,Harawira P,Cheng S,Gray M,Whaanga T,Pearce N,Guilford P

    更新日期:2019-01-01 00:00:00

  • Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999.

    abstract::Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-005-5959-5

    authors: Fallen T,Wilson M,Morlan B,Lindor NM

    更新日期:2006-01-01 00:00:00

  • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

    abstract::Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of mal...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9954-9

    authors: Marafie MJ,Dashti M,Al-Mulla F

    更新日期:2017-07-01 00:00:00

  • Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.

    abstract::Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify H...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-008-9230-8

    authors: Nilbert M,Therkildsen C,Nissen A,Akerman M,Bernstein I

    更新日期:2009-01-01 00:00:00

  • Prophylactic oophorectomy in Ontario.

    abstract:OBJECTIVE:To determine the indications, patterns of practice, and complication rates for prophylactic oophorectomy in Ontario. METHODS:From hospital discharge abstracts, 82 hospitals were identified where at least one patient had a prophylactic oophorectomy since 1992. Ethics approval for the chart review was obtained...

    journal_title:Familial cancer

    pub_type: 杂志文章,多中心研究

    doi:10.1023/a:1021174604905

    authors: Elit L,Rosen B,Goel V,McLaughlin J,Fung MK,Shime J,Narod S

    更新日期:2001-01-01 00:00:00

  • Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

    abstract::Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1 and BRCA2 in high risk brea...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-011-9422-5

    authors: Hansen TV,Jønson L,Steffensen AY,Andersen MK,Kjaergaard S,Gerdes AM,Ejlertsen B,Nielsen FC

    更新日期:2011-06-01 00:00:00

  • Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations.

    abstract::The risks of cancers other than breast and ovarian amongst BRCA1 and BRCA2 mutation carriers are based on relatively few family based studies with the risk of specific cancers tested in population based samples of cancers from founder populations. We assessed risks of "other cancers" in 268 BRCA1 families and 222 BRCA...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-011-9506-2

    authors: Moran A,O'Hara C,Khan S,Shack L,Woodward E,Maher ER,Lalloo F,Evans DG

    更新日期:2012-06-01 00:00:00

  • A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

    abstract::Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-017-9982-0

    authors: Gass J,Jackson J,Macklin S,Blackburn P,Hines S,Atwal PS

    更新日期:2017-10-01 00:00:00

  • Does and should breast cancer genetic counselling include lifestyle advice?

    abstract::To optimally inform counselees about their and their relatives' risks, information about lifestyle risk factors, e.g. physical activity and alcohol consumption, might be discussed in breast cancer genetic counselling. This study explored whether lifestyle was discussed, on whose initiative, whether information and/or ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-013-9672-5

    authors: Albada A,Vernooij M,van Osch L,Pijpe A,van Dulmen S,Ausems MG

    更新日期:2014-03-01 00:00:00

  • High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.

    abstract::Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-012-9560-4

    authors: Gaj P,Kluska A,Nowakowska D,Bałabas A,Piątkowska M,Dabrowska M,Niwińska A,Ostrowski J

    更新日期:2012-12-01 00:00:00

  • Hereditary ovarian cancer in Ashkenazi Jews.

    abstract::Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion...

    journal_title:Familial cancer

    pub_type: 杂志文章,评审

    doi:10.1007/s10689-004-9552-0

    authors: Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit K

    更新日期:2004-01-01 00:00:00

  • Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

    abstract::Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00191-4

    authors: Jelsig AM,Bertelsen B,Forss I,Karstensen JG

    更新日期:2020-06-06 00:00:00

  • Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

    abstract::To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-009-9290-4

    authors: Jasperson KW,Vu TM,Schwab AL,Neklason DW,Rodriguez-Bigas MA,Burt RW,Weitzel JN

    更新日期:2010-06-01 00:00:00

  • Hereditary medullary thyroid carcinoma syndromes: experience from western India.

    abstract::The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00219-9

    authors: Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

    更新日期:2021-01-04 00:00:00

  • A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis.

    abstract::In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-012-9587-6

    authors: Ponz de Leon M,Bertarelli C,Casadei GP,Grilli A,Bacchini P,Pedroni M,Jovine E

    更新日期:2013-09-01 00:00:00

  • Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome.

    abstract::Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer a...

    journal_title:Familial cancer

    pub_type: 杂志文章,评审

    doi:10.1007/s10689-020-00225-x

    authors: Vasen HFA

    更新日期:2021-01-19 00:00:00

  • Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

    abstract::Colorectal cancer (CRC) risk associated with germline monoallelic MUTYH mutations remains controversial, although a slightly increased risk for this disease has been suggested. MUTYH and MSH6 proteins act in cooperation during the DNA repair process. Based on this interaction, it was hypothesized that the combination ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-009-9282-4

    authors: Giráldez MD,Balaguer F,Caldés T,Sanchez-de-Abajo A,Gómez-Fernández N,Ruiz-Ponte C,Muñoz J,Garre P,Gonzalo V,Moreira L,Ocaña T,Clofent J,Carracedo A,Andreu M,Jover R,Llor X,Castells A,Castellví-Bel S,Gastrointestinal O

    更新日期:2009-01-01 00:00:00

  • Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.

    abstract::Lynch syndrome (LS) is a genetic condition conferring an elevated risk of gastrointestinal, gynecologic and other malignancies, often before the age of 50. Current guidelines recommend prophylactic gynecologic surgery to manage inherited cancers for female mutation carriers. Data is lacking on women's quality of life ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-017-9997-6

    authors: Etchegary H,Dicks E,Tamutis L,Dawson L

    更新日期:2018-01-01 00:00:00

  • Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.

    abstract::Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In f...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-020-00188-z

    authors: Qureshi N,Dutton B,Weng S,Sheehan C,Chorley W,Robertson JFR,Kendrick D,Kai J

    更新日期:2020-06-11 00:00:00

  • Determining the familial risk distribution of colorectal cancer: a data mining approach.

    abstract::This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index wa...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-015-9860-6

    authors: Chau R,Jenkins MA,Buchanan DD,Ait Ouakrim D,Giles GG,Casey G,Gallinger S,Haile RW,Le Marchand L,Newcomb PA,Lindor NM,Hopper JL,Win AK

    更新日期:2016-04-01 00:00:00

  • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

    abstract::African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-017-0036-4

    authors: Ding YC,Adamson AW,Steele L,Bailis AM,John EM,Tomlinson G,Neuhausen SL

    更新日期:2018-04-01 00:00:00

  • Tumor histology helps to identify Lynch syndrome among colorectal cancer patients.

    abstract:OBJECTIVE:To determine the value of histology in identifying Lynch syndrome among those patients with early onset of colorectal cancer (CRC). METHODS:Demographic, clinical and cancer history data from patients diagnosed with CRC before 60 years of age, and treated at our institution between 1997 and 2005, were collect...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-008-9186-8

    authors: Truta B,Chen YY,Blanco AM,Deng G,Conrad PG,Kim YH,Park ET,Kakar S,Kim YS,Velayos F,Sleisenger MH,Terdiman JP

    更新日期:2008-01-01 00:00:00

  • Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis.

    abstract::The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism a...

    journal_title:Familial cancer

    pub_type: 杂志文章,meta分析,评审

    doi:10.1007/s10689-017-0056-0

    authors: Hao X,Xia L,Qu R,Yang X,Jiang M,Zhou B

    更新日期:2018-07-01 00:00:00