Literature DB >> 15879498

A common variant of CDKN2A (p16) predisposes to breast cancer.

T Debniak1, B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbański, S Niepsuj, B Waśko, S Góźdź, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, J Lubinski.   

Abstract

BACKGROUND: A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several families with CDKN2A mutations,
OBJECTIVE: To determine whether this variant also predisposes to breast cancer.
METHODS: Genotyping was undertaken in 4209 cases of breast cancer, unselected for family history, from 18 hospitals throughout Poland and in 3000 controls.
RESULTS: The odds ratio (OR) associated with the CDKN2A allele for women diagnosed with breast cancer before the age of 50 was 1.5 (p = 0.002) and after age 50 it was 1.3 (p = 0.2). The effect was particularly strong for patients diagnosed at or before the age of 30 (OR = 3.8; p = 0.0002).
CONCLUSIONS: CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations.

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Year:  2005        PMID: 15879498      PMCID: PMC1735931          DOI: 10.1136/jmg.2005.031476

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  24 in total

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2.  An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele.

Authors:  Chandra G Bertram; Rupert M Gaut; Jennifer H Barrett; Elizabeth Pinney; Linda Whitaker; Faye Turner; Veronique Bataille; Isabel Dos Santos Silva; Anthony J Swerdlow; D Timothy Bishop; Julia A Newton Bishop
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3.  Methylation silencing and mutations of the p14ARF and p16INK4a genes in colon cancer.

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4.  Methylation of the p16(Ink4a) tumor suppressor gene 5'-CpG island in breast cancer.

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5.  High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.

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9.  Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.

Authors:  A H Prowse; D C Schultz; S Guo; L Vanderveer; J Dangel; B Bove; P Cairns; M Daly; A K Godwin
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

10.  Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population.

Authors:  Katarzyna Lamperska; Aldona Karezewska; Eliza Kwiatkowska; Andrzej Mackiewicz
Journal:  Acta Biochim Pol       Date:  2002       Impact factor: 2.149

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2.  A genetic variant in CDKN2A/B gene is associated with the increased risk of breast cancer.

Authors:  Soodabeh ShahidSales; Mehraneh Mehramiz; Faezeh Ghasemi; Amir Aledavood; Mehri Shamsi; Seyed Mahdi Hassanian; Majid Ghayour-Mobarhan; Amir Avan
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3.  Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.

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7.  Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.

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8.  Malignant melanoma and breast carcinoma: a bidirectional correlation.

Authors:  W L Ho; H Comber; A D K Hill; G M Murphy
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9.  CDKN2A mutations and melanoma risk in the Icelandic population.

Authors:  A M Goldstein; S N Stacey; J H Olafsson; G F Jonsson; A Helgason; P Sulem; B Sigurgeirsson; K R Benediktsdottir; K Thorisdottir; R Ragnarsson; J Kjartansson; J Kostic; G Masson; K Kristjansson; J R Gulcher; A Kong; U Thorsteinsdottir; T Rafnar; M A Tucker; K Stefansson
Journal:  J Med Genet       Date:  2008-01-04       Impact factor: 6.318

10.  DNA testing for variants conferring low or moderate increase in the risk of cancer.

Authors:  Grzegorz Kurzawski; Janina Suchy; Cezary Cybulski; Joanna Matyjasik; Tadeusz Debniak; Bohdan Górski; Tomasz Huzarski; Anna Janicka; Jolanta Szymanska-Pasternak; Jan Lubinski
Journal:  Hered Cancer Clin Pract       Date:  2008-06-15       Impact factor: 2.857

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