Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
about
New insights into the generation and role of de novo mutations in health and diseaseCancer risks for MLH1 and MSH2 mutation carriers.Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.Recurrent and founder mutations in the PMS2 gene.A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.Update on Lynch syndrome genomics.The pathology of hereditary polyposis syndromes.Advances in Biomarkers: Going Beyond the Carcinoembryonic Antigen.A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.
P2860
Q28073446-F171540E-3414-4D25-B9C8-DBF28AC26B0AQ30563768-30EB84A6-6DB2-456D-81B8-77548D3F1930Q34481263-DA2FF479-181D-47F4-A937-554F59147855Q36243503-F812E1CC-D437-4E12-A22A-70F64E6FFAFBQ36351943-1A66A6BE-BA1C-4C0C-B69A-4CD303A44B13Q36990046-C5562F39-5331-42B8-8F54-146BF657F806Q38262842-57C10755-306A-48D1-8062-93D2D8FB30D6Q38943220-9429284F-788B-4AA7-8EEC-16486914179EQ39498677-526A01C3-8C24-4029-B7B5-1D28E2BD066FQ43893519-FDEC65CF-CDBB-42CB-B34E-0AE1C14960EBQ44884428-2CA875D2-8044-4BCF-981C-33CC16591E24Q55058657-51D157F2-10E1-44E9-B1E4-5356A3D66689
P2860
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@ast
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@en
type
label
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@ast
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@en
prefLabel
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@ast
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@en
P2093
P2860
P50
P1476
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
@en
P2093
Barbara A Leggett
Jack Goldblatt
Joanne P Young
Mark Clendenning
Noralane M Lindor
P2860
P304
P356
10.1136/JMEDGENET-2011-100082
P407
P577
2011-06-02T00:00:00Z