ライフサイエンスコーパス: familial melanoma

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1 y of a cohort of children from families with familial melanoma.

2 k of melanoma in patients from families with familial melanoma.

3 rder to identify other genes associated with familial melanoma.

4 chronic exposure, increases melanoma risk in familial melanoma.

5 two genes together account for a minority of familial melanoma.

6 e useful to help unravel the complexities of familial melanoma.

7 atterns of melanomas in multiple primary and familial melanomas.

8 ype 1 in the context of multiple primary and familial melanomas.

9 andom sample of 133 members of families with familial melanoma 2 to 18 years of age with variable ris

10 was 2.8 (95% CI, 2.3-3.4) for patients with familial melanoma and 2.5 (95% CI, 2.3-2.7) for patients

11 (LOD=2.54), a region already linked to both familial melanoma and ND.

12 2A loss-of-function mutations are a cause of familial melanoma and offer the opportunity to determine

13 accuracy and is acquired by the most common familial melanoma-associated CDKN2A mutation, leading to

14 These results demonstrate that particular familial melanoma-associated mutations in p16 can select

15 Here we constructed 12 different familial melanoma-associated point mutants spanning the

16 variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA

17 are recurrent POT1 variants in US and French familial melanoma cases.

18 Notable risk in young patients with familial melanoma during first 5-year follow-up after fi

19 found a notable risk in young patients with familial melanoma during the first 5-year follow-up afte

20 ditary syndromes: basal cell nevus syndrome, familial melanoma/dysplastic nevus syndrome, and xeroder

21 The familial melanoma gene (INK4a/MTS1/CDKN2) encodes potent

22 So far, two genes associated with familial melanoma have been identified, accounting for a

23 that POT1 is a major susceptibility gene for familial melanoma in several populations.

24 Familial melanoma is an excellent human model system for

25 Familial melanoma is associated with point mutations in

26 thin the p16INK4a gene have been detected in familial melanoma kindreds, specific targeting of this g

27 ation that p16 was frequently inactivated in familial melanoma kindreds.

28 anoma in the context of multiple primary and familial melanomas may improve prevention, diagnosis, an

29 mutations of p16(INK4a) are associated with familial melanoma, most melanomas result from somatic ge

30 Familial melanoma patients are reported to present with

31 Familial melanoma patients develop melanomas earlier and

32 ion in melanoma cells and in the germline of familial melanoma patients.

33 Familial melanoma predisposition is associated with germ

34 found in melanoma tumors and associated with familial melanoma predisposition.

35 GenoMEL, comprising major familial melanoma research groups from North America, Eu

36 Asia, and Australia has created the largest familial melanoma sample yet available to characterize m

37 ted variants in MTAP, a gene adjacent to the familial melanoma susceptibility locus CDKN2A on 9p21 (r

38 The clinical phenotypes of familial melanoma syndromes and genetic and environmenta

39 The familial melanoma syndromes are associated with germline

40 revalence is unknown in more common cases of familial melanoma that do not involve large families wit

41 In the surveillance of familial melanoma, the identification of children at gre

42 the most prominent susceptibility locus for familial melanomas, the low frequency of p16 mutations i

43 second melanoma was higher in patients with familial melanoma who received a diagnosis at younger th

44 phenotype and environmental relationships in familial melanoma will likely lead to improved understan

45 focal examination, from multiple primary and familial melanomas with known CDKN2A mutational status w

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