Race and family history assessment for breast cancer

Abstract Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the value of family history unknown. We evaluated the utility of incorporating family history information for genomic sequencing selection. Methods To ascertain the relationship between family histories on such population-level initiatives, we analysed whole genome sequences of 1750 research participants with no known pre-existing conditions, of which half received comprehensive family history assessment of up to four generations, focusing on 95 cancer genes. Results Amongst the 1750 participants, 866 (49.5%) had high-quality standardised family history available. Within this group, 73 (8.4%) participants had an increased family history risk of cancer (increased FH risk cohort) and 1 in 7 participants (n = 10/73) carried a clinically actionable variant inferring a sixfold increase compared with 1 in 47 participants (n = 17/793) assessed at average family history cancer risk (average FH risk cohort) (p = 0.00001) and a sevenfold increase compared to 1 in 52 participants (n = 17/884) where family history was not available (FH not available cohort) (p = 0.00001). The enrichment was further pronounced (up to 18-fold) when assessing only the 25 cancer genes in the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes. Furthermore, 63 (7.3%) participants had an increased family history cancer risk in the absence of an apparent clinically actionable variant. Conclusions These findings demonstrate that the collection and analysis of comprehensive family history and genomic data are complementary and in combination can prioritise individuals for genomic analysis. Thus, family history remains a critical component of health risk assessment, providing important actionable data when implementing genomics screening programs. Trial registration ClinicalTrials.gov NCT02791152. Retrospectively registered on May 31, 2016.

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Family history of breast cancer and local recurrence after breast conserving therapy

European Journal of Cancer ◽

10.1016/s0959-8049(98)80040-3 ◽

1998 ◽

Vol 34 ◽

pp. S12

Author(s):

C.T.M. Brekelmans ◽

A.C. Voogd ◽

G. Botke ◽

A.N. van Geel ◽

P. Rodrigus ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

Local Recurrence ◽

Breast Conserving Therapy ◽

History Of

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Health beliefs, salience of breast cancer family history, and involvement with breast cancer issues: adherence to annual mammography screening recommendations

Cancer Detection and Prevention ◽

10.1016/s0361-090x(03)00133-8 ◽

2003 ◽

Vol 27 (5) ◽

pp. 353-359 ◽

Cited By ~ 29

Author(s):

Lila J Finney Rutten ◽

Ronald J Iannotti

Keyword(s):

Breast Cancer ◽

Family History ◽

Health Beliefs ◽

Mammography Screening ◽

Breast Cancer Family ◽

Cancer Family ◽

Cancer Family History ◽

Breast Cancer Family History

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Breast cancer family history as a risk factor for early onset breast cancer

Breast Cancer Research and Treatment ◽

10.1007/bf01807285 ◽

1988 ◽

Vol 11 (3) ◽

pp. 263-267 ◽

Cited By ~ 43

Author(s):

Henry T. Lynch ◽

Patrice Watson ◽

Theresa Conway ◽

Mary Lee Fitzsimmons ◽

Jane Lynch

Keyword(s):

Breast Cancer ◽

Risk Factor ◽

Family History ◽

Early Onset ◽

Early Onset Breast Cancer ◽

Breast Cancer Family ◽

Cancer Family ◽

Cancer Family History ◽

Breast Cancer Family History

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A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

The Canadian Journal of Psychiatry ◽

10.1177/070674379804300405 ◽

1998 ◽

Vol 43 (4) ◽

pp. 375-380 ◽

Cited By ~ 17

Author(s):

Mary Jane Esplen ◽

Brenda Toner ◽

Jonathan Hunter ◽

Gordon Glendon ◽

Kate Butler ◽

...

Keyword(s):

Breast Cancer ◽

At Risk ◽

Family History ◽

Group Therapy ◽

Perceived Risk ◽

Positive Family History ◽

Risk Information ◽

Degree Relative ◽

Therapy Approach ◽

History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

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Breast cancer four times more likely in women with strong family history

Oncology Times UK ◽

10.1097/01434893-200902000-00004 ◽

2009 ◽

Vol 6 (2) ◽

pp. 4

Author(s):

&NA;

Keyword(s):

Breast Cancer ◽

Family History ◽

Strong Family History

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Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer

BMC Medical Genomics ◽

10.1186/s12920-020-00862-2 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Jun Wu ◽

Alibiati Eni ◽

Eliar Roussuri ◽

Binlin Ma

Keyword(s):

Breast Cancer ◽

Family History ◽

Gene Polymorphism ◽

Zinc Finger ◽

Zinc Finger Protein ◽

Control Groups ◽

Wild Genotype ◽

Mutant Genotype ◽

Synonymous Mutations ◽

Significant Difference

Abstract Background This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast cancer. Methods The ZBRK1/ZNF350 gene exon detection analysis was performed with the direct sequencing and Snapshot methods in 80 cases of breast cancer (aged ≤ 40 years old) and 240 healthy subjects (aged ≤ 40 years old). Results Totally 9 sequence variants were detected, including 5 missense mutations and 4 synonymous mutations, located at EXON3, EXON4 and EXON5, respectively. The rs4987241 and rs3764538 variants were published for the first time, while the remaining variants had been reported before. There were significant differences in the frequency distribution of family history between the breast cancer and control groups. Moreover, there were significant differences in the CT genotype frequency at the rs138898320 locus between the breast cancer and healthy control groups. Compared with the carriers of CC wild genotype at rs138898320, the risk of breast cancer was reduced by 88.3% in the CT mutant genotype carriers, with significant difference. In the stratification with no family history, compared with the carriers of CC wild genotype at rs138898320, significant differences were observed for the CT mutant genotype carriers. In the stratification with family history, there was no significant difference in the variation of rs138898320. Conclusion The rs138898320 CT mutation genotype of ZBRK1/ZNF350 may reduce the risk of breast cancer, and the protecting effect would be increased in the stratification with no family history. Trial registration Not applicable.

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