ライフサイエンスコーパス: Lynch syndrome

1 ry to identify patients at high risk for the Lynch syndrome).

2 women with a mismatch repair gene mutation (Lynch syndrome).

3 ce and prevention programs for patients with Lynch syndrome.

4 ipation rate among relatives at risk for the Lynch syndrome.

5 trategies for patients with colon cancer and Lynch syndrome.

6 Lynch syndrome, whereas its absence excludes Lynch syndrome.

7 arget susceptible to aberrant methylation in Lynch syndrome.

8 ven those meeting the strongest criteria for Lynch syndrome.

9 tions of this gene which are associated with Lynch syndrome.

10 adenoma and carcinoma among persons with the Lynch syndrome.

11 g appropriate cancer screening in women with Lynch syndrome.

12 l adenoma or carcinoma among carriers of the Lynch syndrome.

13 lar studies consistent with the diagnosis of Lynch syndrome.

14 eral salpingo-oophorectomy in women with the Lynch syndrome.

15 ncer is the most common cancer in women with Lynch syndrome.

16 ly diagnosed endometrial cancer patients had Lynch syndrome.

17 tic testing in a large population at risk of Lynch syndrome.

18 r genes, and terms related to the biology of Lynch syndrome.

19 metrial and ovarian cancer in women with the Lynch syndrome.

20 ance, but colorectal cancer was only seen in Lynch syndrome.

21 e classified as Lynch syndrome and 68 as non-Lynch syndrome.

22 seen major advances in the understanding of Lynch syndrome.

23 HNPCC may appropriately identify women with Lynch syndrome.

24 and DNA mismatch repair genes for suspected Lynch syndrome.

25 et either clinical or molecular criteria for Lynch syndrome.

26 ditary non-polyposis colon cancer (HNPCC) or Lynch syndrome.

27 tumors and that 7% of cases had features of Lynch syndrome.

28 ally in sessile serrated adenomas/polyps and Lynch syndrome.

29 ssification of VUSs in genes associated with Lynch syndrome.

30 nts with double somatic colorectal tumors or Lynch syndrome.

31 tation spectrum, and risk of CRC in AAs with Lynch syndrome.

32 lel sequencing in individuals with suspected Lynch syndrome.

33 ith the most common inherited CRC condition, Lynch syndrome.

34 One family met diagnostic criteria for Lynch syndrome.

35 especially appealing goal for patients with Lynch syndrome.

36 that of individuals of European descent with Lynch syndrome.

37 ealthy intestinal tissues from patients with Lynch syndrome.

38 idelines for the management of patients with Lynch syndrome.

39 nt of neoplasias and tumors in patients with Lynch syndrome.

40 n linked to many genetic diseases, including Lynch syndrome.

41 ously identified in individuals suspected of Lynch syndrome.

42 the MLH1 promoter are likely to be caused by Lynch syndrome.

43 patients or clinicians reduced detection of Lynch syndrome.

44 y nonpolyposis colorectal cancer (HNPCC), or Lynch, syndrome.

45 tient illustrates two current concepts about Lynch syndrome: 1) adenomas are the cancer precursor and

46 Among the 23 probands with the Lynch syndrome, 10 were more than 50 years of age and 5

47 (83.3%) had at least 1 gene mutation: 37 had Lynch syndrome (13, MLH1 [including one with constitutio

48 th Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis,

49 of these patients had a mutation causing the Lynch syndrome (2.2 percent).

50 with 4 of 18 (22%) tumors from patients with Lynch syndrome, 2 of 10 (20%) tumors with MLH1 hypermeth

51 ereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome

52 ects had pathogenic variants associated with Lynch syndrome (25 with mutations in MSH2, 24 with mutat

53 h confirmed cases of Lynch syndrome (SIR for Lynch syndrome, 6.04; 95% confidence interval [CI], 3.58

54 olyps--and tissue derived from patients with Lynch syndrome--78 low-grade dysplastic adenomas, 57 hig

55 Lynch syndrome, a nonpolyposis form of hereditary colore

56 202 families meeting Amsterdam criteria for Lynch syndrome accounted for 2.6% of all colorectal canc

57 te instability (MSI), which is a hallmark of Lynch syndrome, activities must also exist that unwind s

58 ereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of

59 , education and genetic counseling regarding Lynch syndrome (age 21 years).

60 Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis co

61 lonoscopic surveillance for individuals with Lynch syndrome, although the optimal age at initiation a

62 orectal cancer to identify families with the Lynch syndrome, an autosomal dominant cancer-predisposit

63 Twenty-nine families were classified as Lynch syndrome and 68 as non-Lynch syndrome.

64 ent management of families suspected to have Lynch syndrome and demonstrates the value of multidiscip

65 A detailed explanation of Lynch syndrome and the methodology utilized to derive th

66 cancers; 3% are of these are associated with Lynch syndrome and the other 12% are caused by sporadic,

67 12 patients with genetic mutation leading to Lynch syndrome, and 13 patients with cancer.

68 screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for th

69 lorectal cancer with and without evidence of Lynch syndrome are at equal risk of high-risk adenomas d

70 Patients with Lynch syndrome are at high risk for colon and endometria

71 Women in families with Lynch syndrome are less aware of their risks for extraco

72 he mutations reported as potentially causing Lynch syndrome are missense mutations in human mismatch

73 CRC in patients with a putative diagnosis of Lynch syndrome are scarcely defined, and many of them un

74 data describing cancer risks associated with Lynch syndrome are variable.

75 nt of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorecta

76 ent 15% of all colorectal cancers, including Lynch syndrome as the most frequent hereditary form of t

77 l tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicit

78 Individuals with a history of Lynch syndrome-associated cancer (odds ratio [OR], 0.1;

79 All patients had a history of Lynch syndrome-associated cancer and/or polyps.

80 cluded having a first-degree relative with a Lynch syndrome-associated cancer, endometrial tumor with

81 for endometrial cancer, and 25%-32% for any Lynch syndrome-associated cancer.

82 Lynch syndrome-associated cancers are amenable to survei

83 No elevated risk for non-Lynch syndrome-associated cancers was observed.

84 were calculated to estimate risks for other Lynch syndrome-associated cancers.

85 d type of mutation influence age at onset of Lynch syndrome-associated cancers.

86 trospective cohort study of individuals with Lynch syndrome-associated colorectal, endometrial, and/o

87 ion scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS

88 can improve the likelihood of identifying a Lynch syndrome-associated germline mutation in MLH1, MSH

89 ge 50 years, 9% were found to carry germline Lynch syndrome-associated mutations.

90 amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss o

91 120 with low and 74 with high likelihood of Lynch syndrome based on tumor molecular profile.

92 lies with LLS is lower that of families with Lynch syndrome but higher than that of families with spo

93 PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutat

94 rates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed wi

95 r PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMM

96 Amsterdam-positive (MSS HNPCC) (N = 22); (2) Lynch syndrome cancers (identified mismatch repair mutat

97 Patients with Lynch syndrome carry germline mutations in single allele

98 A significant proportion of Lynch syndrome cases are believed to be due to large gen

99 This selective strategy missed 4.9% of Lynch syndrome cases but resulted in 34.8% fewer cases r

100 the analysis of 71 CRC cases suspected to be Lynch syndrome cases for MSH2, MLH1, MSH6, and PMS2 gene

101 g that sporadic cases can be admixed in with Lynch syndrome cases, even those meeting the strongest c

102 Lynch syndrome, caused by germline mutations in the mism

103 Lynch syndrome, clonal hematopoiesis, and cervical intra

104 reater sensitivity for the identification of Lynch syndrome compared with multiple alternative strate

105 Lynch syndrome confers increased risk for various malign

106 Individuals with known Lynch syndrome could be risk stratified by mutated gene

107 tumor testing to identify families with the Lynch syndrome could yield substantial benefits at accep

108 r of methylated markers (8.4), surprisingly, Lynch syndrome CRCs also demonstrated frequent methylati

109 n event not only in sporadic CRC but also in Lynch syndrome CRCs.

110 Among people with Lynch syndrome, current smokers have an increased risk o

111 ting for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm, combinatoria

112 well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-as

113 A diagnosis of Lynch syndrome, familial adenomatous polyposis, or anoth

114 utations in MSH2 have been reported in a few Lynch syndrome families that lacked germline mutations i

115 s who underwent clinical genetic testing for Lynch syndrome from 2012 through 2013.

116 Evaluation with an NGS panel that included Lynch syndrome genes and other genes associated with hig

117 ghly penetrant CRCP syndromes in addition to Lynch syndrome genes as a first-line test is likely to p

118 ian cancer genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes.

119 al option for patients with colon cancer and Lynch syndrome, goals of treatment are to maximize life

120 Increased screening for Lynch syndrome has identified patients with tumors that

121 Individuals with Lynch syndrome have a high risk of developing colorectal

122 asia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) ar

123 In Lynch syndrome (hereditary nonpolyposis colon cancer), a

124 s is often used as a screening criterion for Lynch syndrome (hereditary nonpolyposis colorectal cance

125 Women with the Lynch syndrome (hereditary nonpolyposis colorectal cance

126 Lynch syndrome (hereditary nonpolyposis colorectal cance

127 SH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cance

128 h hereditary nonpolyposis colorectal cancer (Lynch syndrome, HNPCC) and a significant proportion of s

129 he DNA mismatch repair (MMR) gene MSH2 cause Lynch syndromes I and II and sporadic colorectal cancers

130 ients with colorectal adenocarcinoma for the Lynch syndrome identified mutations in patients and thei

131 Identifying families at high risk for the Lynch syndrome (ie, hereditary nonpolyposis colorectal c

132 nt of the neoplasms arising in patients with Lynch syndrome III, mice deficient in MSH6 die premature

133 and desirability of molecular screening for Lynch syndrome in all endometrial cancer patients.

134 The prevalence of Lynch syndrome in patients with LUS endometrial carcinom

135 hniques are available to identify hereditary Lynch syndrome in people with newly diagnosed colorectal

136 t fulfill the Amsterdam I or II criteria for Lynch syndrome in the Utah population and investigate th

137 Multiple adenomas were only seen in non-Lynch syndrome individuals (13/197; 6.6%), Fisher exact

138 Cancer was observed only in Lynch syndrome individuals (4/91; 4.4%), Fisher exact te

139 igh-risk adenomas occurred in 7 of 91 (7.7%) Lynch syndrome individuals and 15 of 197 (7.6%) non-Lync

140 Therefore non-Lynch syndrome individuals do require colonoscopic surve

141 Lynch syndrome individuals require short surveillance in

142 yndrome individuals and 15 of 197 (7.6%) non-Lynch syndrome individuals, adjusted relative risk 1.15

143 The population prevalence of Lynch syndrome is 0.442%.

144 Lynch syndrome is a hereditary cancer syndrome associate

145 Lynch syndrome is an autosomal dominant predisposition t

146 Lynch syndrome is an inherited cause of colorectal cance

147 Lynch syndrome is associated with inherited germline mut

148 Lynch syndrome is caused by dominantly inherited germlin

149 Lynch syndrome is caused by germline mutations in the mi

150 Lynch syndrome is caused primarily by mutations in the m

151 The identification of individuals with Lynch syndrome is desirable because they can benefit fro

152 ied as mutated in an individual suspected of Lynch syndrome is listed as critical in such a reverse d

153 A universal screening strategy for Lynch syndrome is potentially effective because the over

154 Tumor screening for Lynch syndrome is recommended in all or most patients wi

155 Lynch syndrome is the most common form of hereditary col

156 Lynch syndrome is the most common hereditary colorectal

157 Lynch syndrome is the most common hereditary form of col

158 r; however, the risk of pancreatic cancer in Lynch syndrome is uncertain and not quantified.

159 sis colorectal cancer (HNPCC), also known as Lynch syndrome, is caused by mutations in the mismatch r

160 We developed a mouse model of Lynch syndrome (Lgr5-CreERT2;Msh2(flox/-) mice) and foun

161 Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC.

162 Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to

163 Persons with Lynch syndrome (LS) have high lifetime risk of developin

164 The best screening practice for Lynch syndrome (LS) in endometrial cancer (EC) remains u

165 Identifying individuals with Lynch syndrome (LS) is highly beneficial.

166 Purpose Current Lynch syndrome (LS) prediction models quantify the risk

167 ll colorectal cancers (CRCs) be screened for Lynch syndrome (LS) through microsatellite instability (

168 of the common cancer predisposition disorder Lynch syndrome (LS), also known as hereditary nonpolypos

169 s) define the Muir-Torre syndrome variant of Lynch syndrome (LS), which is associated with increased

170 r has been described as a component tumor of Lynch syndrome (LS), with tumors obtained from mutation

171 SI) are well-established tools to screen for Lynch syndrome (LS).

172 thogenic mutations, including 33 (3.1%) with Lynch syndrome (LS).

173 are causative for the cancer predisposition Lynch syndrome (LS).

174 For young (30-year-old) patients with Lynch syndrome, mean survival was slightly better with T

175 ch syndrome (microsatellite unstable) or non-Lynch syndrome (microsatellite stable).

176 ctal cancer history) to classify families as Lynch syndrome (microsatellite unstable) or non-Lynch sy

177 luded hereditary non-polyposis colon cancer, Lynch syndrome, microsatellite instability, mismatch rep

178 o compare them with those from patients with Lynch syndrome, MLH1-hypermethylated, or microsatellite-

179 ellent potential for preclinical modeling of Lynch syndrome, MMR-deficient tumors of other tissue typ

180 In individuals with suspected Lynch syndrome, multigene panel testing identified high-

181 e panel testing identified 114 probands with Lynch syndrome mutations (9.0%; 95% CI, 7.6%-10.8%) and

182 ns at risk were tested, and of these, 52 had Lynch syndrome mutations and 65 did not.

183 syndrome or were strongly suspected to have Lynch syndrome on the basis of tissue-based molecular as

184 Defects in human mismatch repair genes cause Lynch syndrome or hereditary non-polyposis colorectal ca

185 rtially explain the MSH2 allele frequency in Lynch syndrome or hereditary nonpolyposis colorectal can

186 families that fulfill Amsterdam criteria for Lynch syndrome or hereditary nonpolyposis colorectal can

187 women with LUS tumors were confirmed to have Lynch syndrome or were strongly suspected to have Lynch

188 elatives with a mutation associated with the Lynch syndrome, particularly women, whose life expectanc

189 e for the clinical genetic identification of Lynch syndrome patients and families.

190 960s) and prophylactic surgeries, such as in Lynch syndrome patients begun in 1977.

191 Seven of the 10 Lynch syndrome patients did not meet any published crite

192 ctal tissues that included both sporadic and Lynch syndrome patients.

193 angements in a large population of suspected Lynch syndrome patients.

194 alterations in hMLH1 and hMSH2 in suspected Lynch syndrome patients.

195 Lynch syndrome poses multiple cancer risks, yet attentio

196 re pooled from the German and Dutch national Lynch syndrome registries.

197 al or endometrial cancer who participated in Lynch syndrome screening studies in Ohio and were found

198 treatment of colon cancer in a patient with Lynch syndrome: segmental colectomy (SEG) and total abdo

199 the basis of our results, the possibility of Lynch syndrome should be considered in women with LUS tu

200 Individuals with Lynch syndrome should be encouraged to avoid smoking.

201 LLS than in families with confirmed cases of Lynch syndrome (SIR for Lynch syndrome, 6.04; 95% confid

202 methylation occurs in MSH2 mutation-positive Lynch syndrome subjects or sporadic colorectal cancers (

203 and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screeni

204 rehensive Cancer Network (NCCN) criteria for Lynch syndrome testing (88%; 95% confidence interval [CI

205 RCA2; 93% of these met the NCCN criteria for Lynch syndrome testing and 33% met NCCN criteria for BRC

206 cope of such mutations, and routine clinical Lynch syndrome testing often does not include analysis f

207 all of these patients met NCCN criteria for Lynch syndrome testing.

208 ry nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, the hamartomatous polyposis syndromes, a

209 spirin and a resistant starch in carriers of Lynch syndrome, the major form of hereditary colorectal

210 Almost all Lynch syndrome tumors have MSI or abnormal IHC and they

211 tissues, including 222 sporadic CRCs and 46 Lynch syndrome tumors that did not express MSH2.

212 idence for frequent MSH2 hypermethylation in Lynch syndrome tumors with MSH2 deficiency.

213 related markers were significantly higher in Lynch syndrome tumors with MSH2 methylation than MSH2-un

214 n 24% (11 of 46) of MSH2-deficient (presumed Lynch syndrome) tumors, whereas no evidence for MSH2 met

215 imited data regarding how well patients with Lynch syndrome understand the clinical implications of g

216 Studying all endometrial cancer patients for Lynch syndrome using a combination of MSI and immunohist

217 ssification of VUSs in genes associated with Lynch syndrome using data collected through both syndrom

218 uspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS),

219 a prospective analysis of 386 subjects with Lynch syndrome, we calculated hazard ratios for the asso

220 ive studies of the efficacy of screening for Lynch syndrome, we identified patients with colorectal a

221 om probands referred for genetic testing for Lynch syndrome were analyzed for the presence of large g

222 nted germ-line mutations associated with the Lynch syndrome were identified.

223 A total of 1063 individuals with proven Lynch syndrome were included, 495 male and 568 female (m

224 rs previously reported to be associated with Lynch syndrome were observed, several previously unrepor

225 In the CAPP2 randomised trial, carriers of Lynch syndrome were randomly assigned in a two-by-two fa

226 In the CAPP2 study, individuals with Lynch syndrome were randomly assigned in a two-by-two fa

227 ariate analysis of variables associated with Lynch syndrome) were compared with tumor MMR testing of

228 Patients were diagnosed with Lynch syndrome when they were found to have pathogenic g

229 y prompts further investigations to diagnose Lynch syndrome, whereas its absence excludes Lynch syndr

230 ontext of the autosomal dominantly inherited Lynch syndrome, which is due to mutations in mismatch re

231 Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethyl

232 or women with a mutation associated with the Lynch syndrome who begin regular screening and have risk

233 We describe a 48-year-old woman with Lynch syndrome who was found to have an adenoma with inv

234 Patients at risk for Lynch syndrome with an indeterminate genetic test result

235 Screening for the Lynch syndrome with immunohistochemistry followed by BRA

236 under mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%.

237 tumors with MMR defects during screening for Lynch syndrome, yet have no identifiable germline mutati