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Inherited hematologic cancer-predisposing syndrome

MedGen UID:
1842853
•Concept ID:
C5681832
•
Disease or Syndrome
Synonym: inherited hematologic cancer-predisposing syndrome
 
Monarch Initiative: MONDO:0850064
Orphanet: ORPHA619340

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited hematologic cancer-predisposing syndrome

Recent clinical studies

Etiology

Germline TP53 pathogenic variants and breast cancer: A narrative review.
Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M
Cancer Treat Rev 2023 Mar;114:102522. Epub 2023 Jan 31 doi: 10.1016/j.ctrv.2023.102522. PMID: 36739824
Family-based germline sequencing in children with cancer.
Kuhlen M, Taeubner J, Brozou T, Wieczorek D, Siebert R, Borkhardt A
Oncogene 2019 Feb;38(9):1367-1380. Epub 2018 Oct 10 doi: 10.1038/s41388-018-0520-9. PMID: 30305723Free PMC Article
Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes.
Taeubner J, Wieczorek D, Yasin L, Brozou T, Borkhardt A, Kuhlen M
Trends Cancer 2018 Nov;4(11):718-728. Epub 2018 Sep 20 doi: 10.1016/j.trecan.2018.09.002. PMID: 30352675
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Am J Hum Genet 2015 Nov 5;97(5):661-76. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.10.001. PMID: 26522472Free PMC Article

Diagnosis

Family-based germline sequencing in children with cancer.
Kuhlen M, Taeubner J, Brozou T, Wieczorek D, Siebert R, Borkhardt A
Oncogene 2019 Feb;38(9):1367-1380. Epub 2018 Oct 10 doi: 10.1038/s41388-018-0520-9. PMID: 30305723Free PMC Article
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
Taeubner J, Brozou T, Qin N, Bartl J, Ginzel S, Schaper J, Felsberg J, Fulda S, Vokuhl C, Borkhardt A, Kuhlen M
Eur J Hum Genet 2018 Jan;26(1):137-142. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0048-4. PMID: 29230040Free PMC Article

Prognosis

Germline TP53 pathogenic variants and breast cancer: A narrative review.
Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M
Cancer Treat Rev 2023 Mar;114:102522. Epub 2023 Jan 31 doi: 10.1016/j.ctrv.2023.102522. PMID: 36739824
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Am J Hum Genet 2015 Nov 5;97(5):661-76. Epub 2015 Oct 29 doi: 10.1016/j.ajhg.2015.10.001. PMID: 26522472Free PMC Article

Clinical prediction guides

Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
Taeubner J, Brozou T, Qin N, Bartl J, Ginzel S, Schaper J, Felsberg J, Fulda S, Vokuhl C, Borkhardt A, Kuhlen M
Eur J Hum Genet 2018 Jan;26(1):137-142. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0048-4. PMID: 29230040Free PMC Article

Supplemental Content

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