Category: VUS

• Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
• Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
• Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.

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• Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
• Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
• Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.

• PMID: 36424660
• PubMed abstract

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• Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
• Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
• Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.

• PMID: 36427680
• PubMed abstract
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• Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
• Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
• Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

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• DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.
• McCarthy-Leo C, Darwiche F, Tainsky MA.
• Cancers (Basel). 2022 Oct 27;14(21):5278. doi: 10.3390/cancers14215278.

• PMID: 36358700
• PubMed abstract
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• Review
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• Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
• Caliskan S, Akar OS, Gun S, Kefeli M.
• Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.

• PMID: 36367123
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• Case report
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• Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
• Abdallah N, Purrington KS, Tatineni S, Assad H, Petrucelli N, Simon MS.
• Cancer Causes Control. 2022 Nov 12. doi: 10.1007/s10552-022-01648-w. Epub ahead of print.

• PMID: 36370215
• PubMed abstract
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• Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
• Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
• JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.

• PMID: 36370464
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• Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
• Budurlean L, Baker M, Broach J.
• BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.

• PMID: 36368728
• PubMed abstract
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• Case report

• MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
• Karalidou V, Kalfakakou D, Papathanasiou A, Fostira F, Matsopoulos GK.
• Biomolecules. 2022 Oct 24;12(11):1552. doi: 10.3390/biom12111552.

• PMID: 36358902
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• From the patient to the population: Use of genomics for population screening.
• Mighton C, Shickh S, Aguda V, Krishnapillai S, Adi-Wauran E, Bombard Y.
• Front Genet. 2022 Oct 24;13:893832. doi: 10.3389/fgene.2022.893832.

• PMID: 36353115
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• Review
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• Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
• Felbor U, Bülow R, Schmutzler RK, Rath M.
• Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.

• PMID: 36292468
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• Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
• Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
• Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.

• PMID: 36290365
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• Myriad Genetics to Submit Hereditary Cancer Risk Variants to ClinVar in 2023.
• Ray T.
• GenomeWeb. 2022 Nov 1.

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• News

• Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
• Andrikopoulou A, Zografos E, Apostolidou K, Kyriazoglou T, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Liontos M, Dimopoulos M, Zagouri F.
• Front Oncol. 2022 Oct 31;12:1030786. doi: 10.3389/fonc.2022.1030786.

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• Hereditary variants of unknown significance in African American women with breast cancer.
• McDonald JT, Ricks-Santi LJ.
• PLoS One. 2022 Oct 31;17(10):e0273835. doi: 10.1371/journal.pone.0273835.

• PMID: 36315513
• PubMed abstract

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• How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
• Rashkin M, Kingham K, Lara-Otero , Mckenna M, Villiers J, Worthington MM, Prince A.
• J Genet Couns. 2022 Oct 19. doi: 10.1002/jgc4.1638. Epub ahead of print.

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