Annika Lindblom

Risk perception after genetic counseling in patients with increased risk of cancer (2009)

Rantala, Johanna, Platten, Ulla, Lindgren, Gunilla, Nilsson, Bo, Arver, Brita, Lindblom, Annika, ...

Abstract Background Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping...

New common variants affecting susceptibility to basal cell carcinoma. (2009)

Stacey, Simon N, Sulem, Patrick, Masson, Gisli, Gudjonsson, Sigurjon A, Thorleifsson, Gudmar, Jakobsdottir, Margret, ...

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Sequence variants at the TERT-CLPTM1L locus associate with many cancer types (2009)

Rafnar, Thorunn, Sulem, Patrick, Stacey, Simon N, Geller, Frank, Gudmundsson, Julius, Sigurdsson, Asgeir, ...

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Association of ESR1 gene tagging SNPs with breast cancer risk (2009)

Dunning, Alison M., Healey, Catherine S., Baynes, Caroline, Maia, Ana-Teresa, Scollen, Serena, Vega, Ana, ...

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55 000 breast cancer cases and controls from...

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer (2008)

Kiemeney, Lambertus A, Thorlacius, Steinunn, Sulem, Patrick, Geller, Frank, Aben, Katja K H, Stacey, Simon N, ...

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Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q (2008)

Picelli, Simone, Vandrovcova, Jana, Jones, Siân, Djureinovic, Tatjana, Skoglund, Johanna, Zhou, Xiao-Lei, ...

Abstract Background Colorectal cancer is one of the most common causes of cancer-related mortality. The disease is clinically and genetically heterogeneous though a strong hereditary component has...

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome (2008)

Burn, John, Bishop, Timothy, Bertario, Lucio, Jarvinen, Heikki J., Lindblom, Annika, Evans, D. Gareth, ...

Background: Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary...

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer (2007)

Margolin, Sara, Eiberg, Hans, Lindblom, Annika, Bisgaard, Marie

Abstract Background A truncating variant, 1100delC, in check point-kinase CHEK2, has been identified as a risk factor for familial and sporadic breast cancer. The prevalence in healthy non-breast...

A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families (2007)

Von Wachenfeldt, Anna, Lindblom, Annika, Grönberg, Henrik, Einbeigi, Zakaria, Rosenquist, Richard, ...

Abstract Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in...

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics (2007)

Lagerstedt Robinson, Kristina, Liu, Tao, Vandrovcova, Jana, Halvarsson, Britta, Clendenning, Mark, Frebourg, Thierry, ...

Background Preventive programs for individuals who have high lifetime risks of colorectal cancer may reduce disease morbidity and mortality. Thus, it is important to identify the factors that are...

A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2breast cancer (2004)

Zhou, Xiao-Lei, Werelius, Barbro, Lindblom, Annika

Abstract Introduction The CCCTC-binding factor (CTCF), known as a versatile transcription factor and chromatin insulator and to be involved in X inactivation, has also been suggested to be a tumour...

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas (2004)

Kajsa Ericson, Jacob Engellau, Annette Persson, Annika Lindblom, Henryk Domanski, Måns Åkerman, ...

Purpose: Soft tissue sarcomas (STS) account for less than 1% of all malignancies and constitute a heterogeneous tumor entity in which malignant fibrous histiocytomas (MFH) represent one-third and are...

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline Mismatch Repair defects and hMLH1 methylation status (2004)

Oliveira, Carla, Westra, Jantine L, Arango, Diego, Ollikainen, Miina, Domingo, Enric, Ferreira, Ana, ...

In sporadic colorectal tumours the BRAFV600E is associated with microsatellite instability (MSI-H) and inversely associated to KRAS mutations. Tumours from HNPCC patients carrying germline mutations...

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status (2004)

Oliveira, Carla, Westra, Jantine L., Arango, Diego, Ollikainen, Miina, Domingo, Enric, Ferreira, Ana, ...

In sporadic colorectal tumours the BRAFV600E is associated with microsatellite instability (MSI-H) and inversely associated to KRAS mutations. Tumours from hereditary non-polyposis colorectal cancer...

Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability (2004)

Umar, Asad, Boland, C. Richard, Terdiman, Jonathan P., Syngal, Sapna, Chapelle, Albert De La, Rüschoff, Josef, ...

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite...

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline Mismatch Repair defects and hMLH1 methylation status (2004)

Oliveira, Carla, Westra, Jantine L, Arango, Diego, Ollikainen, Miina, Domingo, Enric, Ferreira, Ana, ...

In sporadic colorectal tumours the BRAFV600E is associated with microsatellite instability (MSI-H) and inversely associated to KRAS mutations. Tumours from HNPCC patients carrying germline mutations...

A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility (2003)

Rafii, Saeed, Lindblom, Annika, Reed, Malcolm, Meuth, Mark, Cox, Angela

Inherited mutations of the BRCA1 and BRCA2 genes, whose protein products are necessary for the homology-directed DNA repair pathway, confer a dominant susceptibility to cancer. We have investigated...

Viktigt att upptäcka ärftliga fall av kolorektal- och endometriecancer. Mutationer hos »HNPCC-individer» kan orsaka flera tumörsjukdomar [Essential to discover hereditary colorectal and endometrial cancer. ] (2002)

Nilbert, Mef, Grönberg, Henrik, Lindblom, Annika

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is one of our most common hereditary cancer syndromes and confers an increased risk for several tumor types, with the greatest lifetime risks being...

CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk (2002)

Lei, Haixin, Sjoberg-Margolin, Sara, Salahshor, Sima, Werelius, Barbro, Jandákova, Eva, Hemminki, Kari, ...

Mutations and diminished expression of the E-cadherin gene (CDH1) have been identified in a number of epithelial malignancies. Although somatic CDH1 mutations were detected in lobular breast cancer...

CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk (2002)

Lei, Haixin, Sjoberg-Margolin, Sara, Salahshor, Sima, Werelius, Barbro, Jandakova, Eva, Hemminki, Kari, ...

Mutations and diminished expression of the E-cadherin gene (CDH1) have been identified in a number of epithelial malignancies. Although somatic CDH1 mutations were detected in lobular breast cancer...

COL11A1 in FAP polyps and in sporadic colorectal tumors (2001)

Fischer, Heléne, Salahshor, Sima, Stenling, Roger, Björk, Jan, Lindmark, Gudrun, Iselius, Lennart, ...

Abstract Background We previously reported that the α-1 chain of type 11 collagen ( COL11A1 ), not normally expressed in the colon, was up-regulated in stromal fibroblasts in most sporadic...

Low frequency of E-cadherin alterations in familial breast cancer (2001)

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N, Loman, Niklas, Sjöberg-Margolin, Sara, ...

Abstract In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus,...

Differential expression of Aquaporin 8 in human colonic epithelial cells and colorectal tumors (2001)

Fischer, Heléne, Stenling, Roger, Rubio, Carlos, Lindblom, Annika

Abstract Background The gene expression pattern in tumor cells differs from that in corresponding normal cells. In order to identify differentially expressed genes in colorectal tumors and normal...

Low frequency of E-cadherin alterations in familial breast cancer (2001)

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N., Loman, Niklas, Sjoberg-Margolin, Sara, ...

In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were...

Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2 (2001)

Fischer, Heléne, Stenling, Roger, Rubio, Carlos, Lindblom, Annika

Collagen is the major component of the interstitial extracellular matrix (ECM). ECM is known to play an active role in numerous biological processes such as cell shape, proliferation, migration,...

Sequence variability of a prolonged tetranucleotide repeat (1995)

Liu, Yie, Rasool, Omid, Grandér, Dan, Lindblom, Annika, Einhorn, Stefan

A tetranucleotide repeat located in intron 20 of the RB gene consists of 16–26 CTTT(±T) repeats in 99% of the alleles. In the remaining 1% of alleles the segment is extended to a...

Low frequency of E-cadherin alterations in familial breast cancer

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N, Loman, Niklas, Sjöberg-Margolin, Sara, ...

In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were...

Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer

Sæterdal, Ingvil, Bjørheim, Jens, Lislerud, Kari, Gjertsen, Marianne K., Bukholm, Ida K., Olsen, Ole Christian, ...

The functional role and specificity of tumor infiltrating lymphocytes (TIL) is generally not well characterized. Prominent lymphocyte infiltration is the hallmark of the most common form of...

Low frequency of E-cadherin alterations in familial breast cancer

Salahshor, Sima, Haixin, Lei, Huo, Huagang, Kristensen, Vessela N, Loman, Niklas, Sjöberg-Margolin, Sara, ...

In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were...

Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer

Sæterdal, Ingvil, Bjørheim, Jens, Lislerud, Kari, Gjertsen, Marianne K., Bukholm, Ida K., Olsen, Ole Christian, ...

The functional role and specificity of tumor infiltrating lymphocytes (TIL) is generally not well characterized. Prominent lymphocyte infiltration is the hallmark of the most common form of...

An Evaluation of Genetic Heterogeneity in 145 Breast-Ovarian Cancer Families

Narod, Steven A., Ford, Deborah, Devilee, Peter, Barkardottir, Rosa B., Lynch, Henry T., Smith, Simon A., ...

The breast-ovary cancer–family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17ql2-q21. The majority, but not all, of...

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas

Ericson, Kajsa, Engellau, Jacob, Persson, Annette, Lindblom, Annika, Domanski, Henryk, Åkerman, Måns, ...

Purpose: Soft tissue sarcomas (STS) account for less than 1% of all malignancies and constitute a heterogeneous tumor entity in which malignant fibrous histiocytomas (MFH) represent one-third and are...