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Showing posts with label mutations. Show all posts
Showing posts with label mutations. Show all posts
Saturday, May 26, 2012

PLoS ONE: The KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Cancer (study of pts with both ovarian and breast cancers)

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Blogger's Note: the other cancers (KRAS mutations) referred to beyond ovarian and breast cancers include references to lung and melano...
Tuesday, May 22, 2012

paywalled: Meta-analysis of gene expression profiles associated with histological classification and survival in 829 ovarian cancer samples - International Journal of Cancer

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Meta-analysis of gene expression profiles associated with histological classification and survival in 829 ovarian cancer samples - Fekete - ...
Tuesday, May 08, 2012

medical news: Hypoxia Could Drive Cancer Growth

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Hypoxia Could Drive Cancer Growth "Low oxygen levels in cells may be a primary cause of uncontrollable tumor growth in some cancers,...
Sunday, May 06, 2012

Epigenetic modification and cancer: mark or stamp? (BRCA/fallopian tube....)

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Epigenetic modification and cancer: mark or stamp? Abstract Hypotheses are built upon data, but data require hypotheses before they c...
Saturday, May 05, 2012

paywalled: US firm corners exclusive license for RAD51C cancer gene : The Lancet Oncology (breast/ovarian mutation)

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US firm corners exclusive license for RAD51C cancer gene : The Lancet Oncology US firm corners exclusive license for RAD51C cancer ge...
Saturday, April 14, 2012

open access: Gynecologic Oncology Case Reports - A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome

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ScienceDirect.com - Gynecologic Oncology Case Reports - A case of endometrial cancer in the context of a BRCA2 mutation and double heterozyg...
Tuesday, April 10, 2012

abstract: Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses.

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Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses Sanger sequencing and MLPA analyses. Genet Mo...
Tuesday, April 03, 2012

abstract: Rare Mutations in XRCC2 Increase the Risk of Breast Cancer.

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 Blogger's Note : see recent post for a null finding XRCC/Lynch Syndrome Rare Mutations in XRCC2 Increase the Risk of Breast Cancer. :...
Sunday, April 01, 2012

abstract: Insertion of an SVA element, a non-autonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

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Insertion of an SVA element, a non-autonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome. : Hum Mutat. 2012 M...
Sunday, March 25, 2012

open access - Revie: Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers - Journal of Internal Medicine (references to Lynch Syndrome/Familial Melanoma)

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Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers - Journal of Inte...
Wednesday, March 21, 2012

The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors.

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The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors. : Abstract Missense variants discovered during...
Friday, March 16, 2012

Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer

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Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer Mutation analy...
Monday, February 27, 2012

open access: Correspondence Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: More Trouble With Phenocopies

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Correspondence:  Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: More Trouble With Phenocopies D. Ga...
Saturday, February 04, 2012

abstract: KRAS mutations in ovarian low-grade endometrioid adenocarcinoma: association with concurrent endometriosis (study of KRAS/BRAF mutations)

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Summary The association between ovarian endometrioid adenocarcinoma and endometriosis is well established. However, not all endometrio...
Friday, February 03, 2012

abstract: Frequency of Rearrangements in Lynch Syndrome Cases Associated with MSH2: Characterization of a New Deletion Involving both EPCAM and the 5′ Part of MSH2

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".......The tumors of the carriers show high-level MSI and MSH2 protein loss. The clinical correlation provided evidence that the type...
Wednesday, February 01, 2012

open access: PLoS ONE: BRCAness Profile of Sporadic Ovarian Cancer Predicts Disease Recurrence

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Background The consequences of defective homologous recombination (HR) are not understood in sporadic ovarian cancer , nor have the pote...
Friday, January 27, 2012

abstract: DICER1 in ovarian cancers : Nature Genetics (sertoli-leydig/juvenile granulosa/sex-cord stromal tumors) : Nature Publishing Group

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Abstract: "Germline mutations in DICER1 underlie a rare syndrome associated with susceptibility to pleuropulmonary blastoma, cystic...
Tuesday, January 24, 2012

Medical News: BRCA Mutations Also Play Good Role in Ovarian Cancer - in Oncology/Hematology, Ovarian Cancer from MedPage Today

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Action Points A pooled analysis of 26 observational studies found that five-year survival was sig...
Thursday, January 19, 2012

press release: Novel gene mutations associated with bile duct cancer (a Lynch Syndrome associated cancer)

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"...Cancers of the gallbladder and bile duct are diagnosed in 12,000 patients in the U.S. each year, the authors note; but only 10 per...

Hereditary ovarian cancer: Beyond the usual suspects - abstract (Fanconi anemia–BRCA,PARP, RAD51C, RAD51D,BRIP1

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Blogger's Note: see post Myriad Genetics  rights/RAD51C .....With at least 16 genes implicated in hereditary ovarian cancer to dat...