Category: VUS

• Physicians' experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece.
• Fountzilas E, Apostolou P, Vasiliadis AV, Aivazi D, Saloustros E, Fostira F.
• Fam Cancer. 2022 Jan 24. doi: 10.1007/s10689-022-00290-4. Epub ahead of print.

• PMID: 35067824
• PubMed abstract
• Source abstract

• A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
• Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD.
• HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100078. doi: 10.1016/j.xhgg.2021.100078.

• PMID: 35047863
• PubMed abstract

• Free PMC article
• Free Full Text

• Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
• Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H.
• HGG Adv. 2022 Jan 7;100085. doi: 10.1016/j.xhgg.2022.100085. Epub ahead of print.

• Source abstract

• Free Full Text (PDF)

• Clinical validation of genomic functional screen data: analysis of observed BRCA1 variants in an unselected population cohort.
• Schiabor Barrett KM, Masnick M, Hatchell KE, Savatt JM, Banet N, Buchanan A, Willard HF.
• HGG Adv. 2022 Jan 7;100086. doi: 10.1016/j.xhgg.2022.100086.

• Source abstract

• Free Full Text (PDF)

• Clinical validation of genomic functional screen data: analysis of observed BRCA1 variants in an unselected population cohort.
• Schiabor Barrett KM, Masnick M, Hatchell KE, Savatt JM, Banet N, Buchanan A, Willard HF.
• HGG Adv. 2022 Jan 7;100086. doi: 10.1016/j.xhgg.2022.100086. Epub ahead of print.

• Source abstract

• Free Full Text (PDF)

• Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
• Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P.
• Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078.

• PMID: 35052418
• PubMed abstract
• Source abstract

• Case report
• Free Full Text

• Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes.
• Custódio N, Savisaar R, Carvalho C, Bak-Gordon P, Ribeiro MI, Tavares J, Nunes PB, Peixoto A, Pinto C, Escudeiro C, Teixeira MR, Carmo-Fonseca M.
• Biomedicines. 2022 Jan 18;10(2):199. doi: 10.3390/biomedicines10020199.

• Source abstract

• Free Full Text

• Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
• Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky J, Kurian AW.
• JNCI Cancer Spectr. 2022 Jan 18; pkac002. doi: 10.1093/jncics/pkac002. eCollection 2022 Jan.

• Source abstract

• Free Full Text (PDF)

• Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
• Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
• Cancer Med. 2022 Jan 17. doi: 10.1002/cam4.4541. Epub ahead of print.

• PMID: 35040284
• PubMed abstract
• Source abstract

• Free Full Text

• Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
• Eygelaar D, van Rensburg EJ, Joubert F.
• Sci Rep. 2022 Jan 17;12(1):802. doi: 10.1038/s41598-022-04791-1.

• PMID: 35039564
• PubMed abstract

• Free Full Text

• Value of the loss of heterozygosity to BRCA1 variant classification.
• Santana dos Santos E, Spurdle AM, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P, kConFab Investigators, Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Koike Folgueira MAA, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E.
• NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2.

• Free Full Text

• Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
• Lim BWX, Li N, Rowley SM, Thompson ER, McInerny S, Zethoven M, Scott RJ, Devereux L, Sloan EK, James PA, Campbell IG.
• NPJ Breast Cancer. 2022 Jan 17;8(1):10. doi: 10.1038/s41523-021-00373-y.

• Free Full Text

• BRCA1 Variant Assessment Using a Simple Analytic Assay.
• Kim DM, Feilotter HE, Davey SK.
• J Appl Lab Med. 2022 Jan 11:jfab163. doi: 10.1093/jalm/jfab163. Epub ahead of print.

• PMID: 35021209
• PubMed abstract
• Source abstract

• Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
• Gun-Bilgic D, Aydin-Gumus A, Bilgic A, Cam FS.
• Clin Lab. 2022 Jan 1;68(1). doi: 10.7754/Clin.Lab.2021.210425.

• PMID: 35023674
• PubMed abstract
• Source abstract

• BRCA1 Variant Assessment Using a Simple Analytic Assay.
• Kim DM, Feilotter HE, Davey SK.
• J Appl Lab Med. 2022 Jan 11:jfab163. doi: 10.1093/jalm/jfab163. Epub ahead of print.

• PMID: 35021209
• PubMed abstract
• Source abstract

• Beyond Brca1/2: Homologous Recombination Repair Genetic Profile in A Large Cohort of Apulian Ovarian Cancers.
• Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
• Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.

• Source abstract

• Free Full Text

• Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.
• Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet N.
• J Hum Genet. 2022 Jan 12. doi: 10.1038/s10038-022-01014-3. Epub ahead of print.

• PMID: 35017683
• PubMed abstract
• Source abstract

• BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
• Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S.
• J Int Med Res. 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757.

• PMID: 35000471
• PubMed abstract
• Source abstract

• Free Full Text

• Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients.
• Aksoy F, Tezcan Unlu H, Cecener G, Guney Eskiler G, Egeli U, Tunca B, Efendi Erdem E, Senol K, Gokgoz MS.
• Hum Hered. 2022 Jan 6. doi: 10.1159/000521369. Epub ahead of print.

• PMID: 34991090
• PubMed abstract
• Source abstract

• Free Full Text (PDF)

• BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
• Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E.
• Fam Cancer. 2022 Jan 4. doi: 10.1007/s10689-021-00286-6. Epub ahead of print.

• PMID: 34981296
• PubMed abstract

• Free Full Text

• Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
• Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
• BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.

• PMID: 34979999
• PubMed abstract

• Free Full Text