Limits...
BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubiński J - Br. J. Cancer (2002)

Bottom Line: It is estimated that 25% of families meeting the criteria for hereditary diffuse gastric carcinoma (HDCG) will have germline mutations in the E-cadherin gene.In all but one of these families at least one additional relative was also affected by a malignant tumour.We identified three frameshift mutations and three sequence variants - potentially missense mutations, in six unrelated patients representing 20.7% (six out of 29) of the families investigated.

View Article: PubMed Central - PubMed

Affiliation: Department of Genetics and Pathology, Pomeranian Academy of Medicine, Sczcecin, Poland. aniaj@sci.pam.szczecin.pl

Show MeSH

Related in: MedlinePlus

Pedigrees of three families carrying the BRCA2 alterations: 3 (A), 23 (B) and 11 (C). st, stomach cancer; br, breast cancer; lu, lung cancer; pan, pancreatic cancer; numbers in brackets indicate age at diagnosis of cancer; (+), (−) indicate presence or absence of BRCA2 alteration.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC2376177&req=5

fig1: Pedigrees of three families carrying the BRCA2 alterations: 3 (A), 23 (B) and 11 (C). st, stomach cancer; br, breast cancer; lu, lung cancer; pan, pancreatic cancer; numbers in brackets indicate age at diagnosis of cancer; (+), (−) indicate presence or absence of BRCA2 alteration.

Mentions: In three families the association of detected abnormalities in the BRCA2 gene with stomach cancer was supported by analyses of the occurrence of these changes in relatives. In families No 3 and 23 mutations were detected in probands with breast cancer but not in the maternal side of family where stomach cancer was not observed (Figure 1A,BFigure 1


BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubiński J - Br. J. Cancer (2002)

Pedigrees of three families carrying the BRCA2 alterations: 3 (A), 23 (B) and 11 (C). st, stomach cancer; br, breast cancer; lu, lung cancer; pan, pancreatic cancer; numbers in brackets indicate age at diagnosis of cancer; (+), (−) indicate presence or absence of BRCA2 alteration.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2376177&req=5

fig1: Pedigrees of three families carrying the BRCA2 alterations: 3 (A), 23 (B) and 11 (C). st, stomach cancer; br, breast cancer; lu, lung cancer; pan, pancreatic cancer; numbers in brackets indicate age at diagnosis of cancer; (+), (−) indicate presence or absence of BRCA2 alteration.
Mentions: In three families the association of detected abnormalities in the BRCA2 gene with stomach cancer was supported by analyses of the occurrence of these changes in relatives. In families No 3 and 23 mutations were detected in probands with breast cancer but not in the maternal side of family where stomach cancer was not observed (Figure 1A,BFigure 1

Bottom Line: It is estimated that 25% of families meeting the criteria for hereditary diffuse gastric carcinoma (HDCG) will have germline mutations in the E-cadherin gene.In all but one of these families at least one additional relative was also affected by a malignant tumour.We identified three frameshift mutations and three sequence variants - potentially missense mutations, in six unrelated patients representing 20.7% (six out of 29) of the families investigated.

View Article: PubMed Central - PubMed

Affiliation: Department of Genetics and Pathology, Pomeranian Academy of Medicine, Sczcecin, Poland. aniaj@sci.pam.szczecin.pl

Show MeSH
Related in: MedlinePlus