Family History – GeneLit

LitAlert ~~ GeneLit.com

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L.
Genes (Basel). 2021 Apr 21;12(5):616. doi: 10.3390/genes12050616.

Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.
Hinshaw JC, Zhao LP, Brimm JE, Payne TH, Hisama FM.
J Genet Couns. 2021 Apr 21. doi: 10.1002/jgc4.1425. Epub ahead of print.

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK.
Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK.
Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.

Clinical implementation of an oncology-specific family health history risk assessment tool.
Fung SM, Wu RR, Myers RA, Goh J, Ginsburg GS, Matchar D, Orlando LA, Ngeow J.
Hered Cancer Clin Pract. 2021 Mar 20;19:20. doi: 10.1186/s13053-021-00177-y.

Correspondence on "Assessing relatives' readiness for hereditary cancer cascade genetic testing" by Bednar et al.
Carlson J.
Genet Med. 2021 Mar 19. doi: 10.1038/s41436-020-01094-6. Epub ahead of print.

Original research:

Assessing relatives' readiness for hereditary cancer cascade genetic testing.

Breast cancer worry in higher-risk women offered preventive therapy: a UK multicentre prospective study.
Lloyd KE, Hall LH, Ziegler L, Smith SG; ENGAGE investigators.
Breast Cancer Res Treat. 2021 Mar 17. doi: 10.1007/s10549-021-06183-x. Epub ahead of print.

The Importance of Learning Your Pancreatic Cancer Risk When Cancer Runs in Your Family.
Coffin T.
FORCE. Blog. 2021 Mar 2.

Secondary malignancies in long-term ovarian cancer survivors: results of the 'Carolin meets HANNA' study.
Woopen H, Rolf C, Braicu EI, Buttmann-Schweiger N, Barnes B, Baum J, Pietzner K, Kraywinkel K, Sehouli J.
Int J Gynecol Cancer. 2021 Mar 1:ijgc-2020-002155. doi: 10.1136/ijgc-2020-002155. Epub ahead of print.

Genetic Testing Challenges in Oncology: Forged Genetic Test Report Leads to Incorrect Management.
Ray T.
Precision Oncology News. 2021 Mar 1.

Therapeutic Potential of Olaparib in Combination With Pembrolizumab in a Young Patient With a Maternally Inherited BRCA2 Germline Variant: A Research Report.
Waddington T, Mambetsariev I, Pharaon R, Fricke J, Baroz AR, Romo H, Ghanem B, Gray S, Salgia R.
Clin Lung Cancer. 2021 Jan 27:S1525-7304(21)00012-7. doi: 10.1016/j.cllc.2021.01.009. Epub ahead of print.

Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study.
Mukama T, Kharazmi E, Sundquist K, Sundquist J, Fallah M.
Cancer. 2021 Feb 23. doi: 10.1002/cncr.33456. Epub ahead of print

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
Lukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Nielacna M, Madry R, Bialkowska K, Prajzendanc K, Kluzniak W, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubinski J, Jakubowska A.
Cancers (Basel). 2021 Feb 18;13(4):E849. doi: 10.3390/cancers13040849.

Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
Leon P, Cancel-Tassin G, Bourdon V, Buecher B, Oudard S, Brureau L, Jouffe L, Blanchet P, Stoppa-Lyonnet D, Coulet F, Sobol H, Cussenot O.
Prostate. 2021 Feb 18. doi: 10.1002/pros.24109. Epub ahead of print.

Identification of Germline Genetic Variants That Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
Saunders EJ, Kote-Jarai Z, Eeles RA.
Cancers (Basel). 2021 Feb 12;13(4):E760. doi: 10.3390/cancers13040760.

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE.
Eur J Cancer. 2021 Feb 9;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub ahead of print.