ライフサイエンスコーパス: Cowden syndrome

1 iscuss the association of this disorder with Cowden syndrome.

2 ses cancer-susceptibility conditions such as Cowden syndrome.

3 sceptibility gene for PTEN mutation negative Cowden syndrome.

4 er has been shown to be a minor component of Cowden syndrome.

5 carcinogenesis in a genuine mouse model for Cowden syndrome.

6 PTEN (MMAC1/TEP1) are found in patients with Cowden syndrome, a familial cancer syndrome which is cha

7 n homolog gene (PTEN) mutations cause 80% of Cowden syndrome, a rare autosomal-dominant disorder (1 i

8 ns in PTEN are responsible for most cases of Cowden Syndrome, a rare familial trait characterized by

9 Here we show that, in patients with Cowden syndrome, an inherited cancer syndrome caused by

10 h PTEN, the tumor suppressor gene mutated in Cowden syndrome, an inherited multiple hamartoma syndrom

11 Germline PTEN mutations cause Cowden syndrome and a range of several different hamarto

12 We show that cell lines from Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome pa

13 and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

14 yndromes that exhibit some clinical overlap, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

15 , SDHD-H50R) are associated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS

16 direction, may account for the remainder of Cowden syndrome and Cowden-like syndrome.

17 alleles of PTEN identified in patients with Cowden syndrome and show that the nonsense Pten(4-5) and

18 multiple endocrine neoplasia type 2 (MEN2), Cowden syndrome, and familial adenomatous polyposis (FAP

19 riety of diseases including lactic acidosis, Cowden Syndrome, and several cancers.

20 n subtle clinical findings that characterize Cowden Syndrome are frequently unrecognized, raising the

21 aps sex-specific neoplasia predisposition in Cowden syndrome, as well as why only a fraction of women

22 in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to bre

23 e mutations of PTEN have been shown to cause Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and P

24 share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Prot

25 hamartoma tumor syndrome" (PHTS) and include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Prot

26 ehend the broad neoplastic manifestations of Cowden syndrome/Bannayan-Riley-Ruvalcaba and sporadic ca

27 TEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-R

28 d to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR)

29 Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

30 t heritable cancer syndromes, including both Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

31 PTEN, encoding a phosphatase on 10q23, cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

32 Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

33 is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

34 Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

35 Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

36 yndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

37 line and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies,

38 Cowden syndrome (CS) is a difficult-to-recognize multipl

39 Cowden syndrome (CS) is a rare autosomal dominant cancer

40 Cowden syndrome (CS) is an autosomal dominant disorder a

41 Cowden syndrome (CS) is an autosomal dominant disorder c

42 Cowden syndrome (CS) is an autosomal dominant disorder t

43 Cowden syndrome (CS) is an autosomal-dominant disorder c

44 Patients with Cowden syndrome (CS) with underlying germline PTEN mutat

45 hyroid cancer is a major component cancer of Cowden syndrome (CS), a disorder typically associated wi

46 is a well-described predisposition gene for Cowden syndrome (CS), a familial cancer syndrome charact

47 Cowden syndrome (CS), a Mendelian autosomal-dominant dis

48 se and tensin homolog (PTEN) mutations cause Cowden syndrome (CS), associated with breast and thyroid

49 Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, a

50 Germline PTEN mutations cause 85% of Cowden syndrome (CS), characterized by a high risk of br

51 sphatase tumor suppressor, is inactivated in Cowden syndrome (CS), characterized by high risk of brea

52 al-specificity phosphatase on 10q23.3, cause Cowden syndrome (CS), which is characterized by a high r

53 n to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple

54 Germline mutations in PTEN cause Cowden syndrome (CS), which is characterized by multiple

55 ociated with the multihamartomatous disorder Cowden syndrome (CS).

56 y recognized that LDD may be associated with Cowden syndrome (CS).

57 Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS).

58 nal hamartomatous polyps are also present in Cowden syndrome (CS; MIM 158350) and Bannayan-Zonana syn

59 Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations

60 e syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden synd

61 The gene for Cowden syndrome has recently been located and it will no

62 in cancer susceptibility syndromes, such as Cowden syndrome, in which over 80% of patients have muta

63 hanisms of the pathogenesis of the subset of Cowden syndrome individuals with germ line promoter vari

64 ociated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS/CSL) and confer hig

65 ospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffecte

66 IN methylation is common among patients with Cowden syndrome or Cowden-like syndrome and is associate

67 Of 123 patients with Cowden syndrome or Cowden-like syndrome, 45 (37%; 95% co

68 cancers as part of families with and without Cowden syndrome or FAP.

69 mosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively.

70 lysine mutant of PTEN, K289E associated with Cowden syndrome, retains catalytic activity but fails to

71 (BMP) have been found in rare families with Cowden syndrome, suggesting that there may be a link bet

72 erited hamartoma tumour syndromes, including Cowden syndrome, which has a high risk of breast and thy

73 in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a high risk of breast, thyroi

74 N result in the dominantly inherited disease Cowden syndrome, which is characterized by multiple hama