List of works - Alisa M. Goldstein

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma

scientific article

A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer

scientific article published on 28 May 2020

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

journal article published in 2015

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies ⬇️

scholarly article by Anne E. Cust published in June 2018

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

scientific article published on 26 July 2013

Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations

scientific article

Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure

scientific article published on 07 June 2019

CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

scientific article

Characterization of large structural genetic mosaicism in human autosome

journal article published in 2015

Common genetic variants in the 9p21 region and their associations with multiple tumours

scientific article

Common sequence variants on 20q11.22 confer melanoma susceptibility

scientific article published on 18 May 2008

Comprehensive evaluation of allele frequency differences of MC1R variants across populations

scientific article published in May 2007

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Detectable clonal mosaicism and its relationship to aging and cancer

journal article published in 2012

Evaluation of Rare and Common Variants from Suspected Familial or Sporadic Nasopharyngeal Carcinoma (NPC) Susceptibility Genes in Sporadic NPC

scientific article published on 03 July 2019

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

journal article published in 2016

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers

scientific article

Genetic variants in DNA repair genes and the risk of cutaneous malignant melanoma in melanoma‐prone families with/without CDKN2A mutations ⬇️

scientific article published on August 9, 2011

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours

scientific article published on 30 June 2015

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies

scientific article published on 8 February 2012

Geographical variation in the penetrance of CDKN2A mutations for melanoma

scientific article

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

scientific article

Heterogeneity of risk for melanoma and pancreatic and digestive malignancies

scientific article published on 01 December 2004

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

scientific article published on December 2009

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

journal article published in 2014

Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations

scientific article

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

scientific article published on September 2011

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

scientific article published in July 2008

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

scientific article

On the interplay of telomeres, nevi and the risk of melanoma

scientific article

Pediatric melanoma in melanoma-prone families

scientific article published on 12 September 2018

Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression

scientific article

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma

scientific article

Rare germline variants in known melanoma susceptibility genes in familial melanoma

scientific article published on 3 October 2017

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

scientific article

Sebaceous carcinoma epidemiology and genetics: Emerging concepts and clinical implications for screening, prevention, and treatment

scientific article published on 09 September 2020

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

scientific article

The effect on melanoma risk of genes previously associated with telomere length

scientific article

Variation in Cutaneous Patterns of Melanomagenesis According to Germline CDKN2A/CDK4 Status in Melanoma-Prone Families

scientific article published on 18 July 2019

Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene

scientific article published on 13 June 2016

Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility

scientific article published on 14 September 2016

Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

scientific article published on 03 February 2021

List of works by Alisa M. Goldstein

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma

A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer

A variant in FTO shows association with melanoma risk not due to BMI

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies ⬇️

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations

Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure

CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

Characterization of large structural genetic mosaicism in human autosome

Common genetic variants in the 9p21 region and their associations with multiple tumours

Common sequence variants on 20q11.22 confer melanoma susceptibility

Comprehensive evaluation of allele frequency differences of MC1R variants across populations

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Detectable clonal mosaicism and its relationship to aging and cancer

Evaluation of Rare and Common Variants from Suspected Familial or Sporadic Nasopharyngeal Carcinoma (NPC) Susceptibility Genes in Sporadic NPC

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers

Genetic variants in DNA repair genes and the risk of cutaneous malignant melanoma in melanoma‐prone families with/without CDKN2A mutations ⬇️

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Genome-wide association study identifies three loci associated with melanoma risk

Genome-wide association study identifies three new melanoma susceptibility loci

Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies

Geographical variation in the penetrance of CDKN2A mutations for melanoma

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

Heterogeneity of risk for melanoma and pancreatic and digestive malignancies

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

On the interplay of telomeres, nevi and the risk of melanoma

Pediatric melanoma in melanoma-prone families

Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma

Rare germline variants in known melanoma susceptibility genes in familial melanoma

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Sebaceous carcinoma epidemiology and genetics: Emerging concepts and clinical implications for screening, prevention, and treatment

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

The effect on melanoma risk of genes previously associated with telomere length

Variation in Cutaneous Patterns of Melanomagenesis According to Germline CDKN2A/CDK4 Status in Melanoma-Prone Families

Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene

Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility

Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival