Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes (Q81280342)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18481196%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes (English)

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7 January 2020

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4

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7 January 2020

Håkan Olsson

6

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7 January 2020

author name string

Susanne Magnusson

1

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7 January 2020

Ake Borg

2

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7 January 2020

Ulf Kristoffersson

3

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7 January 2020

Thomas Wiebe

5

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7 January 2020

publication date

15 May 2008

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7 January 2020

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7 January 2020

volume

7

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7 January 2020

issue

4

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7 January 2020

page(s)

331-337

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https://scigraph.springernature.com/pub.10.1007/s10689-008-9195-7

7 January 2020

exact match

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Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

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Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case

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PMS2 mutations in childhood cancer

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Extensive somatic microsatellite mutations in normal human tissue.

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A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

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Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic

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A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

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Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies

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An estimate of the heritable fraction of childhood cancer

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Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

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Increased risk of cancer among siblings of long-term childhood cancer survivors: a report from the childhood cancer survivor study.

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Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

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A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

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Parental cancer in an unselected cohort of children with cancer referred to a single centre

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12 December 2020

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

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Constitutive deficiency in DNA mismatch repair

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12 December 2020

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

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A homozygous mutation in MSH6 causes Turcot syndrome.

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12 December 2020