ライフサイエンスコーパス: HNPCC

1 HNPCC is caused by mutations resulting in defective DNA

2 HNPCC is due to a mutation in one of at least five misma

3 HNPCC is now best diagnosed on molecular grounds using M

4 HNPCC patients have inherited defects in DNA mismatch re

5 HNPCC pretumor progression essentially begins from birth

6 Among 11 HNPCC CRCs, 32 MSI+ sporadic cancers, and 39 MSI- tumors

7 All 13 HNPCC and six medullary tumors had intact cytoplasmic an

8 examined nuclear localization of Dpc4 in 13 HNPCC, six medullary, and 41 sporadic nonmedullary color

9 beta RII mutations were detected in 12 of 14 HNPCCs examined, including 3 of 4 COX-2-negative and 9 o

10 vidual marker sensitivity was assessed in 18 HNPCC tumors.

11 ft mutations in these genes in a panel of 27 HNPCC MMP+ cancers: 52% in hMSH3 and BAX and 33% in hMSH

12 COX-2 was detected in adenomas from 2 of 3 HNPCC, 6 of 7 FAP, and 5 of 8 sporadic cases.

13 ic cases, 91 familial non-HNPCC cases, and 4 HNPCC cases.

14 nd in any of the 45 sporadic cases and the 4 HNPCC cases in the population-based series or in the sec

15 ia for HNPCC, (3) young age at onset, or (4) HNPCC-variant.

16 on rate was also observed in tumours from 41 HNPCC patients, which was dependent on constitutional ge

17 , COX-2 staining was found in 16 of 24 (67%) HNPCC vs. 24 of 26 (92%) sporadic cases (P = 0.035) and

18 A combined dataset of 70 HNPCC families ascertained by traditional high-risk crit

19 In this study, we evaluated tumors from 74 HNPCC kindreds for genomic instability characteristic of

20 Although HNPCC genetic testing does not result in long-term adver

21 r between individuals identified to carry an HNPCC mutation and those who do not carry a known family

22 individuals from families known to carry an HNPCC mutation.

23 o 2 years following surgical resection of an HNPCC-associated cancer or adenoma because of the high r

24 nal history or first-degree relative with an HNPCC-associated cancer), and low (all others).

25 r history or a first-degree relative with an HNPCC-associated cancer.

26 f genomic integrity, similar to the BRCA and HNPCC genes.

27 ved in both sporadic endometrial cancers and HNPCC-related endometrial cancers but with different mut

28 ic testing an important option for HNPCC and HNPCC-like kindreds.

29 smatch repair-deficient tumor cell lines and HNPCC-derived lymphoblastoid cell lines were found to be

30 ng" in combination with "cancer family" and "HNPCC." For studies evaluating specific interventions, q

31 tations in hEXO1 were identified in atypical HNPCC patients, who have been screened to be negative fo

32 Both HNPCC and sporadic MMR-deficient tumors invariably displ

33 gynecological and colorectal cancer in both HNPCC and BRCA1 kindreds, respectively.

34 plays a significant pathogenic role in both HNPCC and sporadic endometrial carcinogenesis, unlike th

35 ESE activity was reduced by HNPCC point mutations in codon 659, indicating that thei

36 ncy of hereditary nonpolyposis colon cancer (HNPCC) based on clinical criteria have varied widely.

37 Hereditary nonpolyposis colon cancer (HNPCC) is a Mendelian dominant syndrome of bowel, endome

38 ng for hereditary nonpolyposis colon cancer (HNPCC) is available, but the rates of acceptance of test

39 cause hereditary non-polyposis colon cancer (HNPCC) or Lynch syndrome.

40 n most hereditary nonpolyposis colon cancer (HNPCC) patients studied.

41 Hereditary nonpolyposis colon cancer (HNPCC) syndrome is characterized by germline mutations i

42 s with hereditary nonpolyposis colon cancer (HNPCC), establishing the link between mismatch repair an

43 cal of hereditary nonpolyposis colon cancer (HNPCC), is due to deficient DNA mismatch repair (MMR) an

44 Hereditary non-polyposis colon cancer (HNPCC), the most common form of hereditary colon cancer,

45 ity in hereditary nonpolyposis colon cancer (HNPCC), we hypothesized that attenuated alleles might al

46 with hereditary non-polyposis colon cancer (HNPCC).

47 hereditary non-polyposis colorectal cancer (HNPCC) [1-8].

48 h hereditary nonpolyposis colorectal cancer (HNPCC) after an abdominal colectomy.

49 Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and DNA mismatch repair (MMR) gene product hMSH2,

50 hereditary non-polyposis colorectal cancer (HNPCC) and in around 17% of sporadic colorectal cancers.

51 n hereditary nonpolyposis colorectal cancer (HNPCC) and in sporadic medullary colorectal cancers.

52 t hereditary nonpolyposis colorectal cancer (HNPCC) and other human cancers are associated with mutat

53 hereditary non-polyposis colorectal cancer (HNPCC) and sporadic tumours.

54 t hereditary nonpolyposis colorectal cancer (HNPCC) cells.

55 h hereditary nonpolyposis colorectal cancer (HNPCC) demonstrated polymorphic MS loci.

56 r hereditary nonpolyposis colorectal cancer (HNPCC) do not have evidence of the germline mismatch rep

57 f hereditary nonpolyposis colorectal cancer (HNPCC) families.

58 f hereditary nonpolyposis colorectal cancer (HNPCC) gene carriers remains uncertain.

59 f hereditary nonpolyposis colorectal cancer (HNPCC) genetic test results on psychological outcomes am

60 n hereditary nonpolyposis colorectal cancer (HNPCC) have been made based on the discovery early in th

61 hereditary non-polyposis colorectal cancer (HNPCC) have previously been found to correlate with exon

62 r hereditary nonpolyposis colorectal cancer (HNPCC) in patients with newly diagnosed colorectal cance

63 Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is a genetically heterogeneous disorder caused by

64 Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome characte

65 Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition that accounts

66 Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized b

67 Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant genetic predisposition s

68 Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease caused

69 Hereditary nonpolyposis colorectal cancer (HNPCC) is associated with defects in DNA mismatch repair

70 Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA

71 Hereditary non-polyposis colorectal cancer (HNPCC) is associated with mutations in four different ge

72 Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by inherited mutations in DNA mismatch-

73 f Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is due to germline DNA mismatch repair gene mutat

74 Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary form of colon cance

75 h hereditary nonpolyposis colorectal cancer (HNPCC) is the most common.

76 , hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, the hamartomatous polyposis sy

77 f hereditary nonpolyposis colorectal cancer (HNPCC) patients, we evaluated the sensitivities of the i

78 e hereditary nonpolyposis colorectal cancer (HNPCC) patients.

79 e hereditary nonpolyposis colorectal cancer (HNPCC) pedigrees.

80 e hereditary nonpolyposis colorectal cancer (HNPCC) syndrome and convey high lifetime cancer risks fo

81 h hereditary nonpolyposis colorectal cancer (HNPCC) were examined for telomerase activity because com

82 hereditary non-polyposis colorectal cancer (HNPCC), account for up to 5% of the total new cases of C

83 Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is caused by mutat

84 hereditary non-polyposis colorectal cancer (HNPCC), an autosomal-dominant early-onset cancer syndrom

85 s hereditary nonpolyposis colorectal cancer (HNPCC), as well as 10-40% of sporadic colorectal, endome

86 h hereditary nonpolyposis colorectal cancer (HNPCC), familial adenomatous polyposis (FAP), and sporad

87 I hereditary nonpolyposis colorectal cancer (HNPCC), familial male precocious puberty (FMPP), Carney

88 t hereditary nonpolyposis colorectal cancer (HNPCC), in which a unique mutation of MSH2 is present at

89 e hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch, syndrome.

90 e hereditary nonpolyposis colorectal cancer (HNPCC), we investigated the possibility that Exo1 might

91 h hereditary nonpolyposis colorectal cancer (HNPCC).

92 n hereditary nonpolyposis colorectal cancer (HNPCC).

93 h hereditary nonpolyposis colorectal cancer (HNPCC).

94 Hereditary Non-Polyposis Colorectal Cancer (HNPCC).

95 hereditary non-polyposis colorectal cancer (HNPCC).

96 hereditary non-polyposis colorectal cancer (HNPCC).

97 s hereditary nonpolyposis colorectal cancer (HNPCC).

98 r Hereditary Nonpolyposis Colorectal Cancer (HNPCC).

99 hereditary non-polyposis colorectal cancer (HNPCC).

100 e hereditary nonpolyposis colorectal cancer (HNPCC).

101 e hereditary nonpolyposis colorectal cancer (HNPCC).

102 f hereditary nonpolyposis colorectal cancer (HNPCC).

103 Hereditary Non-Polyposis Colorectal Cancer (HNPCC).

104 h hereditary nonpolyposis colorectal cancer (HNPCC).

105 hereditary non-polyposis colorectal cancer (HNPCC).

106 h hereditary nonpolyposis colorectal cancer (HNPCC).

107 d hereditary nonpolyposis colorectal cancer (HNPCC).

108 r hereditary nonpolyposis colorectal cancer (HNPCC).

109 hereditary non-polyposis colorectal cancer (HNPCC; refs 1-5).

110 cers (hereditary non-polyposis colon cancer, HNPCC) as well as in sporadic cancers, illustrating the

111 (hereditary nonpolyposis colorectal cancer; HNPCC) is an autosomal-dominant cancer predisposition sy

112 hereditary nonpolyposis colorectal cancers (HNPCC) and a subset of sporadic colon tumors.

113 ty of hereditary nonpolyposis colon cancers (HNPCCs) and about 15% of nonselected ("sporadic") gastro

114 ereditary nonpolyposis colorectal carcinoma (HNPCC) as well as in 20% of presumably sporadic endometr

115 ereditary nonpolyposis colorectal carcinoma (HNPCC) families for which a tumor sample was available w

116 ereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mi

117 ereditary nonpolyposis colorectal carcinoma (HNPCC), in whom hereditary MSI colon cancers develop.

118 ereditary nonpolyposis colorectal carcinoma (HNPCC).

119 P, and defective mismatch repair genes cause HNPCC.

120 mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal ca

121 In contrast to classic HNPCC, CRCs associated with MLH1 415C usually do not hav

122 cancer but who may not be part of classical HNPCC families.

123 netrance of such mutations outwith classical HNPCC kindreds is unknown because families studied to da

124 alter counseling practices, and to consider HNPCC in older individuals than before.

125 effect of NO-NSAIDs on MSI in MMR-deficient HNPCC cells is unknown.

126 utations in the subset of clinically defined HNPCC patients with MIN negative tumors nor in the major

127 We conclude that genetically defined HNPCC accounts for a very small percentage of colon canc

128 ter characterize when MMR loss occurs during HNPCC progression, the extent of deletions in noncoding

129 cancer risk assessment within an established HNPCC kindred.

130 tion carriers, 78% were part of the extended HNPCC spectrum.

131 ly history, inflammatory bowel disease, FAP, HNPCC, and follow-up < 5 years.

132 Fifty HNPCC patients with a primary diagnosis of rectal cancer

133 Among the five HNPCC or MSI+ sporadic CRCs carrying frameshift somatic

134 For HNPCC, 80%-95% can be identified by microsatellite insta

135 s with newly diagnosed colorectal cancer for HNPCC is cost-effective, especially if the benefits to t

136 A combination of the Bethesda criteria for HNPCC and an MSI-H phenotype defined the smallest number

137 of 4 categories: (1) Amsterdam criteria for HNPCC, (2) modified Amsterdam criteria for HNPCC, (3) yo

138 r HNPCC, (2) modified Amsterdam criteria for HNPCC, (3) young age at onset, or (4) HNPCC-variant.

139 mas that do not fulfill classic criteria for HNPCC.

140 ts meeting the strict Amsterdam criteria for HNPCC.

141 Two patients met Amsterdam criteria for HNPCC.

142 akes genetic testing an important option for HNPCC and HNPCC-like kindreds.

143 These include MSH2, which is responsible for HNPCC, FSHR, the gene responsible for FMPP, EFEMP-1, the

144 rmline mutations in those deemed at risk for HNPCC and helped define who should be tested for such mu

145 e routine testing of individuals at risk for HNPCC in the United States should include an assay for t

146 Twenty-seven Ashkenazi probands at risk for HNPCC were ascertained.

147 form the basis of noninvasive screening for HNPCC families.

148 ker of prognosis and as a screening test for HNPCC.

149 y have enabled us to use genetic testing for HNPCC genes to identify high-risk families.

150 the past several years, genetic testing for HNPCC has evolved from a research endeavor to a clinical

151 Genetic counseling and testing for HNPCC significantly influences the use of colonic endosc

152 elieve they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%,

153 instability were offered genetic testing for HNPCC.

154 d the clinical impact of genetic testing for HNPCC.

155 nifestation of MMR deficiency and apart from HNPCC tumors, occurs in approximately 15% of sporadic co

156 In CRCs from HNPCC cases, mutations were sought in the coding region

157 who were carriers of MMR gene mutations from HNPCC families.

158 o the same amino-acid changes recovered from HNPCC tumours, enhance telomerase-independent survival i

159 Colonic and endometrial tumors from HNPCC patients exhibit microsatellite instability (MSI),

160 henotype observed in endometrial tumors from HNPCC patients is attributed to germ line mutations in m

161 eceived information indicating that they had HNPCC-associated mutations and 49 (58%) that they did no

162 is recommended for individuals known to have HNPCC-associated mutations.

163 we have developed two mouse models for human HNPCC and that the mechanisms of tumor development in th

164 asts, murine colonocytes, and isogenic human HNPCC tumor cell lines treated with acetylsalicylic acid

165 ed association of breast cancer with type II HNPCC is controversial.

166 nvolved in the pathogenesis of EC arising in HNPCC cases, and whether PTEN inactivation precedes MMR

167 AT26, D2S123, D5S346, and D17S250 for ASI in HNPCC cancers was 100%, 94%, 72%, 50%, and 50%, respecti

168 The extent of surgery for rectal cancer in HNPCC is controversial.

169 a are the most frequent component cancers in HNPCC, only endometrial cancer has been shown to be a mi

170 f rectal cancer after abdominal colectomy in HNPCC is not known.

171 bservation that MSH2 mutations are common in HNPCC families, whereas mutations in MSH3 and MSH6 are r

172 a consequence of profound MMR deficiency in HNPCC-related ECs.

173 valents of hMSH2 missense mutations found in HNPCC families and in an early onset colon tumor.

174 and PMS2 mutations are only rarely found in HNPCC families.

175 fects of hMLH1 missense alterations found in HNPCC kindreds for their interaction with hPMS2.

176 veral missense alterations of hMSH2 found in HNPCC kindreds that are contained within the consensus i

177 owing MSI are those found most frequently in HNPCC kindreds.

178 ts of the human MSH2 gene, and implicated in HNPCC, were created in the conserved aa of the yeast MSH

179 ed in the human population and implicated in HNPCC.

180 non-sebaceous non-dysplastic skin lesions in HNPCC pedigrees.

181 Carcinogenetic mechanisms in HNPCC also received attention; evidence continues to acc

182 ons, consistent with an early loss of MMR in HNPCC, even before a gatekeeper mutation.

183 ts suggest that PTEN frameshift mutations in HNPCC and sporadic MSI+ tumors are a consequence of mism

184 despread somatic microsatellite mutations in HNPCC cancers.

185 the complex polymorphic MS loci observed in HNPCC adenomas and account for many adenoma features.

186 is study was to re-examine the penetrance in HNPCC using a comprehensive dataset from a geographicall

187 dditional factor in cancer predisposition in HNPCC.

188 herited mutations of these genes are rare in HNPCC families.

189 Germ-line MSH6 mutations, which are rare in HNPCC, have been reported in several families with multi

190 ile bladder cancer is not frequently seen in HNPCC, upper urinary tract tumours (UTTs) are.

191 breast cancer largely arises sporadically in HNPCC patients and is rarely associated with the HNPCC s

192 utations driving malignant transformation in HNPCC (and in sporadic colorectal cancer with microsatel

193 MutL homologues may lead to tumorigenesis in HNPCC kindreds.

194 ype II receptor (RII) mutations are found in HNPCCs, we determined the relationship between RII statu

195 Staining intensity was reduced in HNPCCs compared with sporadic CRCs (P = 0.035).

196 OX-2 expression was significantly reduced in HNPCCs relative to sporadic CRCs, and was not a conseque

197 trial, we genotyped 8,549 SNPS in 13 Jewish HNPCC cases whose colon cancers exhibited microsatellite

198 genetic testing for inherited diseases like HNPCC where the opportunity exists for early diagnosis a

199 rarchy of normal intestines persists in many HNPCC adenomas and some cancers.

200 Given that many HNPCCs express COX-2, inhibition of this enzyme may be a

201 MSS HNPCC tumors displayed a significantly lower degree of L

202 MSS HNPCC tumors had KRAS mutations exclusively in codon 12,

203 ents without mismatch repair deficiency (MSS HNPCC) have certain molecular features, including global

204 Although most MSS HNPCC tumors had some degree of CpG island methylation,

205 enetic alterations to the development of MSS HNPCC tumors.

206 crosatellite stable, Amsterdam-positive (MSS HNPCC) (N = 22); (2) Lynch syndrome cancers (identified

207 oaches to detect microsatellite stable (MSS) HNPCC tumors are unclear.

208 oradic (14%), three familial (16%), and nine HNPCC (45%) cases.

209 including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC cases.

210 Among the 91 population-based familial non-HNPCC cases, germ-line msh6 mutations were found in 6 pa

211 by an over-representation of A allele in non-HNPCC familial cases (P=0.007).

212 The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but t

213 Participant acceptance of HNPCC test results.

214 ogical characteristics, the genetic basis of HNPCC and sporadic colorectal cancer with MSI is differe

215 these genes were found in 10 MMP- cancers of HNPCC patients.

216 Among unaffected carriers of HNPCC-predisposing mutations, mean depression, state anx

217 h susceptibility to tumors characteristic of HNPCC.

218 The diagnosis of HNPCC can be made by fulfillment of the Amsterdam clinic

219 meeting Amsterdam criteria for diagnosis of HNPCC have a lifetime colorectal cancer risk approaching

220 Diagnosis of HNPCC is based on family history (defined by Amsterdam o

221 cting families or patients for evaluation of HNPCC using molecular tests.

222 bility (MSI) of DNA is a hallmark feature of HNPCC-associated tumors, and as many as 15% of cases of

223 review provides an update of the genetics of HNPCC and more generally, of cancer development driven b

224 (iii) finding MMR defects in the germline of HNPCC kindred members; (iv) finding that such defects be

225 n of families for molecular investigation of HNPCC is usually based on suboptimal methods (Amsterdam

226 mily history, to determine the likelihood of HNPCC.

227 ther hMSH2 or hMLH1 underlie the majority of HNPCC cases.

228 nose tumor susceptibility in the majority of HNPCC kindreds and lays the foundation for genetic testi

229 The majority of HNPCC results from germ-line mutations in the DNA mismat

230 H2 genes are responsible for the majority of HNPCC.

231 colonoscopy, in the preventive management of HNPCC.

232 ins the mainstay of preventive management of HNPCC.

233 understand the phenotypic manifestations of HNPCC and other cancers with deficient MMR.

234 tor phenotype (RER+) is very rare outside of HNPCC-associated malignancies.

235 his study sheds light on the pathogenesis of HNPCC, perhaps initiated by an additional MMR gene, hEXO

236 as been reported to modify the penetrance of HNPCC.

237 siblings and children, to the prevalence of HNPCC mutations among patients with newly diagnosed canc

238 lon cancer, a relatively small proportion of HNPCC family members are likely to use genetic testing.

239 be causally responsible for a proportion of HNPCC occurrences.

240 sion symptoms significantly reduced rates of HNPCC test use (OR, 0.34; 95% CI, 0.17-0.66).

241 he interpretation of genetic test results of HNPCC families.

242 parable to that afforded to those at risk of HNPCC.

243 The study of HNPCC has provided an example of the powerful interplay

244 ncer who have a family history suggestive of HNPCC may appropriately identify women with Lynch syndro

245 MSH2 and MLH1 from individuals suspected of HNPCC has revealed a considerable number of missense cod

246 ery similar to that seen in the GI tumors of HNPCC.

247 Two types of HNPCC families can be distinguished: type I (Lynch I) wi

248 to all International Collaborative Group on HNPCC members to identify patients in whom rectal cancer

249 cating human mutant alleles listed in online HNPCC databases, 13 of which had not been previously stu

250 fied Amsterdam criteria, young age at onset, HNPCC-variant, and Bethesda guidelines were 27 (39.3%),

251 ery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychol

252 nal or family history of colorectal or other HNPCC-associated cancers.

253 1 ECs from 29 MLH1 or MSH2 mutation positive HNPCC families and subjected them to PTEN expression and

254 second series of 58 clinic-based, primarily HNPCC families.

255 nce affords a rational strategy for reducing HNPCC-associated colorectal cancer incidence and mortali

256 own to be an effective strategy for reducing HNPCC-associated colorectal cancer incidence and mortali

257 hat in the majority of Eastern United States HNPCC kindreds selected by phenotype alone, the molecula

258 ations in 32 unrelated Eastern United States HNPCC kindreds.

259 ry non-polyposis colorectal cancer syndrome (HNPCC) and its variant Muir-Torre syndrome (MTS) are cau

260 editary non-polyposis colon cancer syndrome (HNPCC), characterized by germline mutations in the misma

261 polyposis colorectal cancer (Lynch syndrome, HNPCC) and a significant proportion of sporadic colorect

262 Together, our results indicate that HNPCC point mutations in codon 659 affect an auxillary e

263 ch repair gene mutations have suggested that HNPCC accounts for close to 3% of all colon cancer, but

264 The HNPCC phenotype has been shown to segregate with germlin

265 and children of patients with cancer and the HNPCC mutation were offered genetic testing, and those w

266 In the HNPCC trial, although a significant P value was not obta

267 In the HNPCC trial, we genotyped 8,549 SNPS in 13 Jewish HNPCC

268 mutations were found in 18% (2 of 11) of the HNPCC CRCs and 13% (4 of 32) of the MSI+ sporadic tumors

269 ical analysis revealed 31% (14 of 45) of the HNPCC CRCs and 41% (9 of 22) of the MSI+ sporadic tumors

270 hemical analysis revealed 68% (28/41) of the HNPCC-related ECs with absent or weak PTEN expression.

271 f the contribution of hMSH2 and hMLH1 to the HNPCC phenotype and suggest that in the majority of East

272 f the known DNA mismatch repair genes to the HNPCC phenotype remains unknown.

273 C patients and is rarely associated with the HNPCC syndrome.

274 xon skipping underlies pathogenesis in these HNPCC families.

275 These data support the notion that these HNPCC-associated mutations may affect some other functio

276 TAG nonsense mutation at codon 461 in three HNPCC families of North American origins.

277 While two of the three HNPCC lines investigated show levels of radiosensitivity

278 for the unfolding of the MMP also applies to HNPCC and further illustrate the importance of the escap

279 utations in MMR genes predispose kindreds to HNPCC suggest a "two-hit" inactivation of both alleles o

280 ther these mutations cause susceptibility to HNPCC, in vitro nuclease activity and protein-protein in

281 ctivity because compared to sporadic tumors, HNPCC tumors are less likely to pass a telomere threshol

282 Interestingly, two HNPCC missense alterations (Q542L and L582V) contained w

283 ions from three individuals belonging to two HNPCC pedigrees showed MSI.

284 da Criteria recommend that patients with two HNPCC-associated cancers undergo molecular evaluation to

285 to one particular MMR gene, MLH1, and unlike HNPCC, an epigenetic rather than a genetic mechanism pla

286 el and have shown that it remains valid when HNPCC is diagnosed using mutation screening, MSI, and im

287 tion of hMLH1 with hPMS2 are associated with HNPCC as well as suggest that other unknown functional a

288 eria the colon cancer burden associated with HNPCC in a population-based study of 1066 individuals fr

289 We looked for gene variants associated with HNPCC in Israeli probands with familial CRC unstratified

290 repair gene mutation surveys associated with HNPCC kindreds report multiple levels of preselection, i

291 mismatch repair (MMR) defect associated with HNPCC.

292 ng 407 European and Australian families with HNPCC.

293 Currently, cancer risks for individuals with HNPCC are based on data from clinically ascertained fami

294 lines for identification of individuals with HNPCC.

295 of choice for a newly diagnosed patient with HNPCC with colon cancer is an abdominal colectomy.

296 The risk of rectal cancer in patients with HNPCC after an abdominal colectomy is approximately 12%

297 Patients with HNPCC had known mutations in hMLH1 or hMSH2 genes and/or

298 udy was performed of 208 index patients with HNPCC meeting the Amsterdam criteria.

299 d in three of the cancers from patients with HNPCC, and all of these harbored inactivating mutations.

300 e considered for chemopreventive trials with HNPCC carriers.